A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv658486



Internal ID15048452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236435808..236618639hg38UCSC Ensembl
Innerchr1:236599108..236781939hg19UCSC Ensembl
Innerchr1:234665731..234848562hg18UCSC Ensembl
Innerchr1:232925149..233107980hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38182832
hg19182832
hg18182832
hg17182832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516855
Supporting Variants
Samples
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv658486
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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