A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600295



Internal ID16387704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172882576..172918983hg38UCSC Ensembl
Innerchr5:172309579..172345986hg19UCSC Ensembl
Innerchr5:172242185..172278592hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3836408
hg1936408
hg1836408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045487
Samples
Known GenesERGIC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600295
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