A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961901



Internal ID18250461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158548028..158549487hg38UCSC Ensembl
Innerchr2:159404540..159405999hg19UCSC Ensembl
Innerchr2:159112786..159114245hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg381460
hg191460
hg181460
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2208698, nssv2208700, nssv2208702, nssv2208701, nssv2208693, nssv2208694, nssv2208695, nssv2208696, nssv2208699, nssv2208697
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPKP4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961901
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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