A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600992



Internal ID16041715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:12961690..13218317hg38UCSC Ensembl
Innerchr6:12961922..13218549hg19UCSC Ensembl
Innerchr6:13069908..13326528hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38256628
hg19256628
hg18256621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1049416
Samples
Known GenesPHACTR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600992
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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