A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968951



Internal ID18604179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76173263..76173763hg38UCSC Ensembl
Innerchr5:75469088..75469588hg19UCSC Ensembl
Innerchr5:75504844..75505344hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2366520, nssv2366524, nssv2366526, nssv2366525, nssv2366521, nssv2366528, nssv2366523, nssv2366527, nssv2366529, nssv2366522
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)nsv968951
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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