A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971297



Internal ID18259831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:35523513..35525567hg38UCSC Ensembl
Innerchr8:35381031..35383085hg19UCSC Ensembl
Innerchr8:35500573..35502627hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382055
hg192055
hg182055
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2500064, nssv2500065, nssv2500070, nssv2500069, nssv2500071, nssv2500068, nssv2500067, nssv2500062, nssv2500066, nssv2500063
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUNC5D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971297
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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