A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980639



Internal ID18615839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:43206769..43207769hg38UCSC Ensembl
Innerchr5:43206871..43207871hg19UCSC Ensembl
Innerchr5:43242628..43243628hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2355291, nssv2355292, nssv2355284, nssv2355293, nssv2355285, nssv2355288, nssv2355289, nssv2355290, nssv2355287, nssv2355286
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNIM1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980639
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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