A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604722



Internal ID16392131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134783086..134954927hg38UCSC Ensembl
Innerchr6:135104224..135276065hg19UCSC Ensembl
Innerchr6:135145917..135317758hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38171842
hg19171842
hg18171842
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1073557
Samples
Known GenesALDH8A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604722
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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