A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961543



Internal ID18596789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194184586..194193374hg38UCSC Ensembl
Innerchr2:195049310..195058098hg19UCSC Ensembl
Innerchr2:194757555..194766343hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg388789
hg198789
hg188789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2216172, nssv2216171, nssv2216169, nssv2216177, nssv2216175, nssv2216173, nssv2216168, nssv2216176, nssv2216174, nssv2216170
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)nsv961543
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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