A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703936



Internal ID15440588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37539652..38038207hg38UCSC Ensembl
Innerchr12:37933454..38432009hg19UCSC Ensembl
Innerchr12:36219721..36718276hg18UCSC Ensembl
Innerchr12:36219721..36718276hg17UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38498556
hg19498556
hg18498556
hg17498556
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527488
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703936
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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