A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700664



Internal ID15090630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31135950..31142983hg38UCSC Ensembl
Innerchr12:31288884..31295917hg19UCSC Ensembl
Innerchr12:31180151..31187184hg18UCSC Ensembl
Innerchr12:31180151..31187184hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387034
hg197034
hg187034
hg177034
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515974
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700664
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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