A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971637



Internal ID18606854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:33539812..33541393hg38UCSC Ensembl
Innerchr8:33397330..33398911hg19UCSC Ensembl
Innerchr8:33516872..33518453hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381582
hg191582
hg181582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2500646, nssv2500648, nssv2500649, nssv2500651, nssv2500654, nssv2500650, nssv2500647, nssv2500652, nssv2500653, nssv2500645
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)nsv971637
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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