A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598569



Internal ID16039292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70969293..71168599hg38UCSC Ensembl
Innerchr5:70265120..70464426hg19UCSC Ensembl
Innerchr5:70300876..70500182hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38199307
hg19199307
hg18199307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9859n54
Supporting Variantsnssv1034952
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598569
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