A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699341



Internal ID15089307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50134964..50314769hg38UCSC Ensembl
Innerchr3:50172397..50352200hg19UCSC Ensembl
Innerchr3:50147401..50327204hg18UCSC Ensembl
Innerchr3:50147401..50327204hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38179806
hg19179804
hg18179804
hg17179804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523560
Supporting Variants
Samples
Known GenesGNAI2, GNAT1, HYAL1, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, NAT6, SEMA3B, SEMA3F, SLC38A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699341
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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