A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997479



Internal ID19157015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190640021..191419217hg38UCSC Ensembl
Innerchr1:190609151..191388347hg19UCSC Ensembl
Innerchr1:188875774..189654970hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38779197
hg19779197
hg18779197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704862
Samples
Known GenesLOC440704
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997479
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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