A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520333



Internal ID15100940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62300855..62304215hg38UCSC Ensembl
Innerchr1:62766527..62769887hg19UCSC Ensembl
Innerchr1:62539115..62542475hg18UCSC Ensembl
Innerchr1:62478548..62481908hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383361
hg193361
hg183361
hg173361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672010, nssv676248, nssv662976
Samples
Known GenesKANK4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520333
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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