A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968141



Internal ID18603369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14796616..14801233hg38UCSC Ensembl
Innerchr5:14796725..14801342hg19UCSC Ensembl
Innerchr5:14849725..14854342hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg384618
hg194618
hg184618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2347239, nssv2347234, nssv2347232, nssv2347230, nssv2347236, nssv2347231, nssv2347233, nssv2347235, nssv2347237, nssv2347238
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKH
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968141
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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