A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519393



Internal ID15100000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239798702..240027288hg38UCSC Ensembl
Innerchr1:239962002..240190588hg19UCSC Ensembl
Innerchr1:238028625..238257211hg18UCSC Ensembl
Innerchr1:236288043..236516629hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38228587
hg19228587
hg18228587
hg17228587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696830
Samples
Known GenesCHRM3, CHRM3-AS1, RPS7P5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519393
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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