A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979184



Internal ID18267701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233671847..233673067hg38UCSC Ensembl
Innerchr2:234580493..234581713hg19UCSC Ensembl
Innerchr2:234245232..234246452hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381221
hg191221
hg181221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2224317, nssv2224321, nssv2224318, nssv2224319, nssv2224315, nssv2224314, nssv2224323, nssv2224322, nssv2224316, nssv2224320
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUGT1A10, UGT1A8, UGT1A9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979184
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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