A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605505



Internal ID16046228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:169171598..169424656hg38UCSC Ensembl
Innerchr6:169571693..169824751hg19UCSC Ensembl
Innerchr6:169313618..169566676hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38253059
hg19253059
hg18253059
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1077357
Samples
Known GenesTHBS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605505
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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