A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605245



Internal ID16045968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:165129197..165432415hg38UCSC Ensembl
Innerchr6:165542686..165845903hg19UCSC Ensembl
Innerchr6:165462676..165765893hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38303219
hg19303218
hg18303218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1075802
Samples
Known GenesC6orf118, PDE10A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605245
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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