A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979115



Internal ID18614318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128215165..128233763hg38UCSC Ensembl
Innerchr2:128972739..128991337hg19UCSC Ensembl
Innerchr2:128689209..128707807hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3818599
hg1918599
hg1818599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2202420, nssv2202426, nssv2202424, nssv2202423, nssv2202429, nssv2202421, nssv2202422, nssv2202428, nssv2202427, nssv2202425
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)nsv979115
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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