A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961448



Internal ID18596694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94676462..94721623hg38UCSC Ensembl
Innerchr2:95342187..95387376hg19UCSC Ensembl
Innerchr2:94705914..94751103hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3845162
hg1945190
hg1845190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2186817, nssv2186813, nssv2186811, nssv2186810, nssv2186819, nssv2186814, nssv2186812, nssv2186816, nssv2186818, nssv2186815
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)nsv961448
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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