A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961844



Internal ID18250404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101002623..101006193hg38UCSC Ensembl
Innerchr2:101619085..101622655hg19UCSC Ensembl
Innerchr2:100985517..100989087hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383571
hg193571
hg183571
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2191547, nssv2191546, nssv2191543, nssv2191544, nssv2191548, nssv2191550, nssv2191552, nssv2191545, nssv2191551, nssv2191549
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL31
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961844
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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