GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3

GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3

Variant type:
copy number gain
Cytogenetic location:
1q41-44
Genomic location:
  • Chr1:223347693 - 248918469 (on Assembly GRCh38)
  • Chr1:223521035 - 249212668 (on Assembly GRCh37)
HGVS:
  • NC_000001.10:g.(?_223521035)_(249212668_?)dup (GRCh37)
  • NC_000001.11:g.(?_223347693)_(248918469_?)dup (GRCh38)
Links:
dbVar: nsv529234

Clinical significance

GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

191 Affected Genes

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Aug 12, 2011)
classified by single submitter
(clinical testing)
clinical testingde novoPubMed (1)
ISCA site 4
(Jun 21, 2014)
SCV000077905

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not provided1not providedde novonot providednot provided

ISCA site 4

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection method
not provided1not providedde novoDevelopmental delay AND/OR other significant developmental or morphological phenotypesnot providednot providedclinical testing

Last Updated: Nov 29, 2014

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