A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961907



Internal ID18597153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171586407..171592154hg38UCSC Ensembl
Innerchr2:172442917..172448664hg19UCSC Ensembl
Innerchr2:172151163..172156910hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385748
hg195748
hg185748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2212594, nssv2212590, nssv2212593, nssv2212596, nssv2212595, nssv2212597, nssv2212588, nssv2212589, nssv2212591, nssv2212592
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)nsv961907
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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