A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961398



Internal ID18596644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38285490..38288129hg38UCSC Ensembl
Innerchr2:38512632..38515271hg19UCSC Ensembl
Innerchr2:38366136..38368775hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg382640
hg192640
hg182640
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2170455, nssv2170454, nssv2170456, nssv2170458, nssv2170453, nssv2170449, nssv2170457, nssv2170451, nssv2170450, nssv2170452
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)nsv961398
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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