A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600184



Internal ID16040907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:161851332..161953538hg38UCSC Ensembl
Innerchr5:161278338..161380544hg19UCSC Ensembl
Innerchr5:161210916..161313122hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38102207
hg19102207
hg18102207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1044940
Samples
Known GenesGABRA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600184
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer