A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961913



Internal ID18597159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:175031731..175034144hg38UCSC Ensembl
Innerchr2:175896459..175898872hg19UCSC Ensembl
Innerchr2:175604705..175607118hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382414
hg192414
hg182414
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2211855, nssv2211856, nssv2211850, nssv2211857, nssv2211848, nssv2211852, nssv2211849, nssv2211853, nssv2211851, nssv2211854
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)nsv961913
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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