A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1174063



Internal ID15872712
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 StatusS
Merged Variantsnsv549403
Supporting Variants
SamplesHGDP00021
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)nssv1174063
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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