A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961469



Internal ID18596715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:104677477..104679117hg38UCSC Ensembl
Innerchr2:105293935..105295575hg19UCSC Ensembl
Innerchr2:104660367..104662007hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381641
hg191641
hg181641
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2191035, nssv2191036, nssv2191037, nssv2191039, nssv2191041, nssv2191040, nssv2191042, nssv2191044, nssv2191043, nssv2191038
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)nsv961469
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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