A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681602



Internal ID15071568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52025620..52316196hg38UCSC Ensembl
Innerchr3:52059636..52350212hg19UCSC Ensembl
Innerchr3:52034676..52325252hg18UCSC Ensembl
Innerchr3:52034676..52325252hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38290577
hg19290577
hg18290577
hg17290577
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519445
Supporting Variants
Samples
Known GenesALAS1, DUSP7, GLYCTK, LINC00696, MIR135A1, MIRLET7G, POC1A, PPM1M, TLR9, TWF2, WDR82
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv681602
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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