A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549403



Internal ID16336812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236440911..236618639hg38UCSC Ensembl
Innerchr1:236604211..236781939hg19UCSC Ensembl
Innerchr1:234670834..234848562hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38177729
hg19177729
hg18177729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174064, nssv1174063
SamplesHGDP01202, HGDP00021
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549403
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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