A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979123



Internal ID18267640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131433120..131457136hg38UCSC Ensembl
Innerchr2:132190693..132214709hg19UCSC Ensembl
Innerchr2:131907163..131931179hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3824017
hg1924017
hg1824017
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2205683, nssv2205686, nssv2205685, nssv2205687, nssv2205688, nssv2205682, nssv2205684, nssv2205689, nssv2205690, nssv2205691
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC401010, RNU6-81P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979123
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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