A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976627



Internal ID18265147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54280990..54285461hg38UCSC Ensembl
Innerchr12:54674774..54679245hg19UCSC Ensembl
Innerchr12:52961041..52965512hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384472
hg194472
hg184472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1932063, nssv1932064, nssv1932060, nssv1932069, nssv1932062, nssv1932067, nssv1932061, nssv1932068, nssv1932065, nssv1932066
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHNRNPA1, HNRNPA1P10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976627
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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