A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527488



Internal ID15454781
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703936
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527488
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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