A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946456



Internal ID18593306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:160842860..160854889hg38UCSC Ensembl
Innerchr1:160812650..160824679hg19UCSC Ensembl
Innerchr1:159079274..159091303hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3812030
hg1912030
hg1812030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1805197, nssv1805198, nssv1805191, nssv1805192, nssv1805196, nssv1805193, nssv1805199, nssv1805190, nssv1805195, nssv1805194
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCD244
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946456
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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