A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597760



Internal ID16385169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29905696..30028340hg38UCSC Ensembl
Innerchr5:29905803..30028447hg19UCSC Ensembl
Innerchr5:29941560..30064204hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38122645
hg19122645
hg18122645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028853
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597760
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