A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980762



Internal ID18269276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176346342..176348319hg38UCSC Ensembl
Innerchr5:175773345..175775322hg19UCSC Ensembl
Innerchr5:175705951..175707928hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381978
hg191978
hg181978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2387546, nssv2387550, nssv2387555, nssv2387547, nssv2387554, nssv2387549, nssv2387553, nssv2387551, nssv2387548, nssv2387552
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKIAA1191
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980762
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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