A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599704



Internal ID16040427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129170896..130297608hg38UCSC Ensembl
Innerchr5:128506589..129633301hg19UCSC Ensembl
Innerchr5:128534488..129661200hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381126713
hg191126713
hg181126713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032505
Samples
Known GenesADAMTS19, CHSY3, KIAA1024L, MIR4460
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599704
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