A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600782



Internal ID16041505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:580362..833579hg38UCSC Ensembl
Innerchr6:580362..833579hg19UCSC Ensembl
Innerchr6:525362..778579hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38253218
hg19253218
hg18253218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154185
Samples1788485589_A
Known GenesEXOC2, HUS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600782
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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