A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961411



Internal ID18249971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:65268731..65271434hg38UCSC Ensembl
Innerchr2:65495865..65498568hg19UCSC Ensembl
Innerchr2:65349369..65352072hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382704
hg192704
hg182704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2174283, nssv2174280, nssv2174279, nssv2174275, nssv2174276, nssv2174282, nssv2174278, nssv2174274, nssv2174277, nssv2174281
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACTR2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961411
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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