A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523115



Internal ID15450408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43234299..43240290hg38UCSC Ensembl
Innerchr1:43699970..43705961hg19UCSC Ensembl
Innerchr1:43472557..43478548hg18UCSC Ensembl
Innerchr1:43369063..43375054hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385992
hg195992
hg185992
hg175992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698814
Samples
Known GenesWDR65
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523115
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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