A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961541



Internal ID18596787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:189307504..189317192hg38UCSC Ensembl
Innerchr2:190172230..190181918hg19UCSC Ensembl
Innerchr2:189880475..189890163hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg389689
hg199689
hg189689
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2216539, nssv2216546, nssv2216541, nssv2216544, nssv2216537, nssv2216542, nssv2216540, nssv2216538, nssv2216545, nssv2216543
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)nsv961541
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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