A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961378



Internal ID18596624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9017765..9018401hg38UCSC Ensembl
Innerchr2:9157894..9158530hg19UCSC Ensembl
Innerchr2:9075345..9075981hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38637
hg19637
hg18637
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2166050, nssv2166054, nssv2166046, nssv2166052, nssv2166048, nssv2166047, nssv2166053, nssv2166049, nssv2166045, nssv2166051
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)nsv961378
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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