A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694463



Internal ID15431115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123161344..123169790hg38UCSC Ensembl
Innerchr3:122880191..122888637hg19UCSC Ensembl
Innerchr3:124362881..124371327hg18UCSC Ensembl
Innerchr3:124362881..124371327hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg388447
hg198447
hg188447
hg178447
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521590
Supporting Variants
Samples
Known GenesMIR7110, PDIA5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694463
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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