A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604600



Internal ID16392009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:125226677..125265041hg38UCSC Ensembl
Innerchr6:125547823..125586187hg19UCSC Ensembl
Innerchr6:125589522..125627886hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3838365
hg1938365
hg1838365
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1072398
Samples
Known GenesTPD52L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604600
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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