A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516688



Internal ID15443981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127770815..127781084hg38UCSC Ensembl
Innerchr12:128255360..128265629hg19UCSC Ensembl
Innerchr12:126821313..126831582hg18UCSC Ensembl
Innerchr12:126780240..126790509hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3810270
hg1910270
hg1810270
hg1710270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662755, nssv670160, nssv673023
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516688
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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