A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983367



Internal ID18271875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119194368..119198501hg38UCSC Ensembl
Innerchr12:119632173..119636306hg19UCSC Ensembl
Innerchr12:118116556..118120689hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg384134
hg194134
hg184134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1945891, nssv1945894, nssv1945888, nssv1945889, nssv1945893, nssv1945887, nssv1945892, nssv1945890, nssv1945896, nssv1945895
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSPB8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983367
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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