A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603005



Internal ID16043728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44244130..44311374hg38UCSC Ensembl
Innerchr6:44211867..44279111hg19UCSC Ensembl
Innerchr6:44319845..44387089hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3867245
hg1967245
hg1867245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10641n54
Supporting Variantsnssv1058424
Samples
Known GenesAARS2, HSP90AB1, MIR4647, NFKBIE, SLC35B2, TCTE1, TMEM151B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603005
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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