A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976119



Internal ID18611326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52601894..52644361hg38UCSC Ensembl
Innerchr13:53176029..53218496hg19UCSC Ensembl
Innerchr13:52074030..52116497hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3842468
hg1942468
hg1842468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1964132, nssv1964138, nssv1964136, nssv1964130, nssv1964134, nssv1964137, nssv1964131, nssv1964133, nssv1964135, nssv1964139
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHNRNPA1L2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976119
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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