A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520033



Internal ID15447326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:48302050..48435698hg38UCSC Ensembl
Innerchr14:48771253..48904901hg19UCSC Ensembl
Innerchr14:47841003..47974651hg18UCSC Ensembl
Innerchr14:47841003..47974651hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38133649
hg19133649
hg18133649
hg17133649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv686674, nssv660175, nssv675053, nssv674529, nssv691327, nssv690305
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520033
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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