A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961799



Internal ID18597045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:84873891..84877191hg38UCSC Ensembl
Innerchr2:85101015..85104315hg19UCSC Ensembl
Innerchr2:84954526..84957826hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg383301
hg193301
hg183301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2180720, nssv2180725, nssv2180719, nssv2180722, nssv2180717, nssv2180721, nssv2180723, nssv2180724, nssv2180726, nssv2180718
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTRABD2A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961799
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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