A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961925



Internal ID18597171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208027656..208032296hg38UCSC Ensembl
Innerchr2:208892380..208897020hg19UCSC Ensembl
Innerchr2:208600625..208605265hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384641
hg194641
hg184641
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2220492, nssv2220489, nssv2220493, nssv2220490, nssv2220494, nssv2220491, nssv2220496, nssv2220495, nssv2220488, nssv2220497
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)nsv961925
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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