A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961461



Internal ID18596707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100427429..100434563hg38UCSC Ensembl
Innerchr2:101043891..101051025hg19UCSC Ensembl
Innerchr2:100410323..100417457hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg387135
hg197135
hg187135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2191250, nssv2191253, nssv2191254, nssv2191252, nssv2191249, nssv2191256, nssv2191248, nssv2191251, nssv2191255, nssv2191257
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)nsv961461
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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