A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978998



Internal ID18614201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42824649..42828217hg38UCSC Ensembl
Innerchr2:43051789..43055357hg19UCSC Ensembl
Innerchr2:42905293..42908861hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383569
hg193569
hg183569
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2169956, nssv2169960, nssv2169957, nssv2169958, nssv2169954, nssv2169953, nssv2169962, nssv2169955, nssv2169961, nssv2169959
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)nsv978998
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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