A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968244



Internal ID18603472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134415068..134427840hg38UCSC Ensembl
Innerchr5:133750759..133763531hg19UCSC Ensembl
Innerchr5:133778658..133791430hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3812773
hg1912773
hg1812773
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2378214, nssv2378213, nssv2378208, nssv2378216, nssv2378207, nssv2378210, nssv2378211, nssv2378215, nssv2378212, nssv2378209
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968244
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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