A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525838



Internal ID15453131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103666012..103669312hg38UCSC Ensembl
Innerchr12:104059790..104063090hg19UCSC Ensembl
Innerchr12:102583920..102587220hg18UCSC Ensembl
Innerchr12:102562257..102565557hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383301
hg193301
hg183301
hg173301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702030
Samples
Known GenesSTAB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525838
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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