A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979107



Internal ID18614310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113521071..113535805hg38UCSC Ensembl
Innerchr2:114278648..114293382hg19UCSC Ensembl
Innerchr2:113995118..114009852hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3814735
hg1914735
hg1814735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2200520, nssv2200525, nssv2200527, nssv2200523, nssv2200524, nssv2200522, nssv2200521, nssv2200526, nssv2200519, nssv2200518
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)nsv979107
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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