A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961910



Internal ID18250470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:174719911..174721450hg38UCSC Ensembl
Innerchr2:175584639..175586178hg19UCSC Ensembl
Innerchr2:175292885..175294424hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381540
hg191540
hg181540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2212164, nssv2212156, nssv2212161, nssv2212159, nssv2212160, nssv2212158, nssv2212162, nssv2212163, nssv2212157, nssv2212155
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961910
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer