A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961933



Internal ID18597179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228752466..228763099hg38UCSC Ensembl
Innerchr2:229617182..229627815hg19UCSC Ensembl
Innerchr2:229325426..229336059hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3810634
hg1910634
hg1810634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2222811, nssv2222810, nssv2222803, nssv2222809, nssv2222804, nssv2222808, nssv2222812, nssv2222806, nssv2222807, nssv2222805
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)nsv961933
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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