A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591799



Internal ID16032522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132662755..133080365hg38UCSC Ensembl
Innerchr3:132381599..132799209hg19UCSC Ensembl
Innerchr3:133864289..134281899hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38417611
hg19417611
hg18417611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv974191
Samples
Known GenesNPHP3, NPHP3-ACAD11, NPHP3-AS1, TMEM108, UBA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591799
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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