GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1

Variation ID: Help
59124
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1

Allele ID:
73719
Variant type:
copy number loss
Cytogenetic location:
9q33
Genomic location:
  • Chr9: 120938041 - 123469664 (on Assembly GRCh38)
  • Chr9: 123700319 - 126231943 (on Assembly GRCh37)
  • Chr9: 122740140 - 125271764 (on Assembly NCBI36)
HGVS:
  • NC_000009.12:g.(?_120938041)_(123469664_?)del (GRCh38)
  • NC_000009.10:g.(?_122740140)_(125271764_?)del (NCBI36)
  • NC_000009.11:g.(?_123700319)_(126231943_?)del (GRCh37)
Links:

45 Affected genes

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Aug 12, 2011)
criteria provided, single submitter
clinical testingnot providedISCA site 17

See additional submitters


Study description
SCV000080276.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
ISCA site 17not provided1not providednot providednot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 5, 2016