A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598940



Internal ID16386349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:92688925..92733701hg38UCSC Ensembl
Innerchr5:92024632..92069408hg19UCSC Ensembl
Innerchr5:92050388..92095164hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3844777
hg1944777
hg1844777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153048
Samples1780862207_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598940
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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