A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523917



Internal ID15451210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240548620..240581484hg38UCSC Ensembl
Innerchr1:240711920..240744784hg19UCSC Ensembl
Innerchr1:238778543..238811407hg18UCSC Ensembl
Innerchr1:237037961..237070825hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3832865
hg1932865
hg1832865
hg1732865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699760
Samples
Known GenesGREM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523917
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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