A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979150



Internal ID18614353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:174309346..174310835hg38UCSC Ensembl
Innerchr2:175174074..175175563hg19UCSC Ensembl
Innerchr2:174882320..174883809hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381490
hg191490
hg181490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2212062, nssv2212059, nssv2212060, nssv2212065, nssv2212067, nssv2212063, nssv2212061, nssv2212066, nssv2212064, nssv2212058
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)nsv979150
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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