A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963761



Internal ID18599001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202611974..202620750hg38UCSC Ensembl
Innerchr2:203476697..203485473hg19UCSC Ensembl
Innerchr2:203184942..203193718hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg388777
hg198777
hg188777
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2217860, nssv2217861, nssv2217862, nssv2217867, nssv2217868, nssv2217865, nssv2217866, nssv2217859, nssv2217863, nssv2217864
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)nsv963761
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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