A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979187



Internal ID18267704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233718717..233719828hg38UCSC Ensembl
Innerchr2:234627363..234628474hg19UCSC Ensembl
Innerchr2:234292102..234293213hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381112
hg191112
hg181112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2225626, nssv2225621, nssv2225622, nssv2225623, nssv2225618, nssv2225625, nssv2225619, nssv2225620, nssv2225617, nssv2225624
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesUGT1A10, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979187
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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