A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647979



Internal ID18599574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:120008789..121501196hg38UCSC Ensembl
Innerchr5:119344484..120836891hg19UCSC Ensembl
Innerchr5:119372383..120864790hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381492408
hg191492408
hg181492408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1020270
Supporting Variants
Samples
Known GenesLOC102467226, PRR16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3647979
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer