A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600790



Internal ID16041513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:666450..667649hg38UCSC Ensembl
Innerchr6:666450..667649hg19UCSC Ensembl
Innerchr6:611450..612649hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381200
hg191200
hg181200
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10268n54
Supporting Variantsnssv1047625, nssv1047623, nssv1047624
Samples
Known GenesEXOC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600790
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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