A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600262



Internal ID16040985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:170661487..171342848hg38UCSC Ensembl
Innerchr5:170088491..170769852hg19UCSC Ensembl
Innerchr5:170021069..170702457hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38681362
hg19681362
hg18681389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045388
Samples
Known GenesGABRP, KCNIP1, RANBP17, TLX3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600262
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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