A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964896



Internal ID18253446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76240218..76242354hg38UCSC Ensembl
Innerchr5:75536043..75538179hg19UCSC Ensembl
Innerchr5:75571799..75573935hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382137
hg192137
hg182137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2366618, nssv2366626, nssv2366620, nssv2366617, nssv2366621, nssv2366625, nssv2366622, nssv2366623, nssv2366624, nssv2366619
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSV2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964896
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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