A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704835



Internal ID15441487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93218118..93286053hg38UCSC Ensembl
Innerchr7:92847431..92915365hg19UCSC Ensembl
Innerchr7:92685367..92753301hg18UCSC Ensembl
Innerchr7:92492082..92560016hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3867936
hg1967935
hg1867935
hg1767935
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528267
Supporting Variants
Samples
Known GenesCCDC132, HEPACAM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704835
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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