A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963746



Internal ID18598986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170746110..170752922hg38UCSC Ensembl
Innerchr2:171602620..171609432hg19UCSC Ensembl
Innerchr2:171310866..171317678hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386813
hg196813
hg186813
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2212460, nssv2212453, nssv2212456, nssv2212459, nssv2212455, nssv2212461, nssv2212457, nssv2212458, nssv2212454, nssv2212452
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)nsv963746
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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