A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961830



Internal ID18250390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95589508..95663812hg38UCSC Ensembl
Innerchr2:96255256..96329560hg19UCSC Ensembl
Innerchr2:95618983..95693287hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3874305
hg1974305
hg1874305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2187278, nssv2187277, nssv2187282, nssv2187284, nssv2187285, nssv2187283, nssv2187279, nssv2187281, nssv2187286, nssv2187280
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesTRIM43
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961830
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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