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GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1

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Interpretation:
Benign​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Feb 23, 2017)
Last evaluated:
Sep 16, 2011
Accession:
VCV000034639.1
Variation ID:
34639
Description:
519.0kb copy number loss
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GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1

Allele ID
43304
Variant type
copy number loss
Variant length
518,965 bp
Cytogenetic location
15q11.2
Genomic location
15: 22655582-23066575 (GRCh38) GRCh38 UCSC
15: 22698522-23217514 (GRCh37) GRCh37 UCSC
15: 20249886-20768955 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.(?_22655582)_(23066575_?)del
NC_000015.8:g.(?_20249886)_(20768955_?)del
NC_000015.9:g.(?_22698522)_(23217514_?)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv582046
dbVar: nsv491715
dbVar: nssv576570
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 no assertion criteria provided Sep 16, 2011 RCV000050334.8

Clinical features observed in individuals with this variant

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 16, 2011)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ISCA site 2
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000196167.2
Submitted: (Jun 21, 2014)
Comment:
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.
Evidence details
Publications
PubMed (1)
Benign
(Feb 28, 2010)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ISCA site 4
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000196168.3
Submitted: (Feb 23, 2017)
Comments (2):
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For … (more)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Miller DT American journal of human genetics 2010 PMID: 20466091

Record last updated Aug 20, 2020