A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521287



Internal ID15101894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77641660..77744882hg38UCSC Ensembl
Innerchr14:78108003..78211225hg19UCSC Ensembl
Innerchr14:77177756..77280978hg18UCSC Ensembl
Innerchr14:77177756..77280978hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38103223
hg19103223
hg18103223
hg17103223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697889
Samples
Known GenesALKBH1, SLIRP, SNW1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521287
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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