A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961551



Internal ID18596797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202239099..202245799hg38UCSC Ensembl
Innerchr2:203103822..203110522hg19UCSC Ensembl
Innerchr2:202812067..202818767hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386701
hg196701
hg186701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2216828, nssv2216831, nssv2216835, nssv2216829, nssv2216827, nssv2216836, nssv2216832, nssv2216833, nssv2216834, nssv2216830
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)nsv961551
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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