A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519502



Internal ID15100109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1205264..1257345hg38UCSC Ensembl
Innerchr12:1314430..1366511hg19UCSC Ensembl
Innerchr12:1184691..1236772hg18UCSC Ensembl
Innerchr12:1184691..1236772hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3852082
hg1952082
hg1852082
hg1752082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700326, nssv660011, nssv656444
Samples
Known GenesERC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519502
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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