A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020270



Internal ID18762806
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 StatusM
Merged Variants
Supporting Variantsnssv3647979
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)nsv1020270
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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