A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2762884



Internal ID17828016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234693313..234707623hg38UCSC Ensembl
Innerchr1:234829060..234843370hg19UCSC Ensembl
Innerchr1:232895683..232909993hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3814311
hg1914311
hg1814311
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947472
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2762884
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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