A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974082



Internal ID18262609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40807240..40810757hg38UCSC Ensembl
Innerchr13:41381376..41384893hg19UCSC Ensembl
Innerchr13:40279376..40282893hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383518
hg193518
hg183518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1959817, nssv1959812, nssv1959808, nssv1959811, nssv1959814, nssv1959810, nssv1959813, nssv1959809, nssv1959816, nssv1959815
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC25A15, TPTE2P5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974082
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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