A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600993



Internal ID16041716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:13190980..13191637hg38UCSC Ensembl
Innerchr6:13191212..13191869hg19UCSC Ensembl
Innerchr6:13299191..13299848hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38658
hg19658
hg18658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1049417
Samples
Known GenesPHACTR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600993
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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