A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598432



Internal ID16039155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69536702..69610894hg38UCSC Ensembl
Innerchr5:68832529..68906721hg19UCSC Ensembl
Innerchr5:68868285..68942477hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3874193
hg1974193
hg1874193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9834n54
Supporting Variantsnssv1034659
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, OCLN, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598432
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