A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979012



Internal ID18614215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:65503956..65514734hg38UCSC Ensembl
Innerchr2:65731090..65741868hg19UCSC Ensembl
Innerchr2:65584594..65595372hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3810779
hg1910779
hg1810779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2175167, nssv2175171, nssv2175164, nssv2175169, nssv2175170, nssv2174371, nssv2175172, nssv2175168, nssv2175165, nssv2175166
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)nsv979012
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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