A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598610



Internal ID16039333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71010851..71071717hg38UCSC Ensembl
Innerchr5:70306678..70367544hg19UCSC Ensembl
Innerchr5:70342434..70403300hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3860867
hg1960867
hg1860867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9862n54
Supporting Variantsnssv1035039
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598610
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