A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600666



Internal ID16041389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179794788..179804681hg38UCSC Ensembl
Innerchr5:179221789..179231681hg19UCSC Ensembl
Innerchr5:179154395..179164287hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389894
hg199893
hg189893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10240n54
Supporting Variantsnssv1047030, nssv1047031
Samples
Known GenesLTC4S, MGAT4B, MIR1229
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600666
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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