A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983572



Internal ID18618765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30427861..30428951hg38UCSC Ensembl
Innerchr13:31001998..31003088hg19UCSC Ensembl
Innerchr13:29899998..29901088hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381091
hg191091
hg181091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1957753, nssv1957748, nssv1957745, nssv1957750, nssv1957747, nssv1957744, nssv1957746, nssv1957751, nssv1957749, nssv1957752
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)nsv983572
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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