A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1049695



Internal ID15556195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:17492862..17893291hg38UCSC Ensembl
Innerchr6:17493093..17893522hg19UCSC Ensembl
Innerchr6:17601072..18001501hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38400430
hg19400430
hg18400430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv601046
Supporting Variants
Samples
Known GenesCAP2, FAM8A1, KIF13A, NUP153
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1049695
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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