A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601047



Internal ID16388456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:17623829..17949122hg38UCSC Ensembl
Innerchr6:17624060..17949353hg19UCSC Ensembl
Innerchr6:17732039..18057332hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38325294
hg19325294
hg18325294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1049696
Samples
Known GenesKIF13A, NUP153
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601047
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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