A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698580



Internal ID15435232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28350789..28452493hg38UCSC Ensembl
Innerchr12:28503722..28605426hg19UCSC Ensembl
Innerchr12:28394989..28496693hg18UCSC Ensembl
Innerchr12:28394989..28496693hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38101705
hg19101705
hg18101705
hg17101705
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522919
Supporting Variants
Samples
Known GenesCCDC91
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698580
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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