A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598429



Internal ID16039152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69534241..69603042hg38UCSC Ensembl
Innerchr5:68830068..68898869hg19UCSC Ensembl
Innerchr5:68865824..68934625hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3868802
hg1968802
hg1868802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9833n54
Supporting Variantsnssv1034656
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)nsv598429
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