A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526688



Internal ID15453981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128970772..129031422hg38UCSC Ensembl
Innerchr12:129455317..129515967hg19UCSC Ensembl
Innerchr12:128021270..128081920hg18UCSC Ensembl
Innerchr12:127980197..128040847hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3860651
hg1960651
hg1860651
hg1760651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703022
Samples
Known GenesGLT1D1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526688
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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