A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967629



Internal ID18602857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118761540..118763151hg38UCSC Ensembl
Innerchr8:119773779..119775390hg19UCSC Ensembl
Innerchr8:119842960..119844571hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg381612
hg191612
hg181612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2517658, nssv2517663, nssv2517664, nssv2517666, nssv2517662, nssv2517659, nssv2517667, nssv2517665, nssv2517661, nssv2517660
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967629
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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