A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966301



Internal ID18254845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99342914..99343730hg38UCSC Ensembl
Innerchr4:100264071..100264887hg19UCSC Ensembl
Innerchr4:100483094..100483910hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38817
hg19817
hg18817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2329224, nssv2329227, nssv2329226, nssv2329228, nssv2329220, nssv2329223, nssv2329222, nssv2329229, nssv2329221, nssv2329225
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesADH1C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966301
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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