A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980272



Internal ID18615472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165258596..165276381hg38UCSC Ensembl
Innerchr4:166179748..166197533hg19UCSC Ensembl
Innerchr4:166399198..166416983hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3817786
hg1917786
hg1817786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2340775, nssv2340776, nssv2340779, nssv2340777, nssv2340783, nssv2340778, nssv2340781, nssv2340774, nssv2340780, nssv2340782
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKLHL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980272
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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