A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524727



Internal ID15452020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119481348..119513778hg38UCSC Ensembl
Innerchr1:120023971..120056401hg19UCSC Ensembl
Innerchr1:119825494..119857924hg18UCSC Ensembl
Innerchr1:119736013..119768443hg17UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3832431
hg1932431
hg1832431
hg1732431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700715
Samples
Known GenesHSD3B1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524727
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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