A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144051



Internal ID19277559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:132722256..132722856hg38UCSC Ensembl
Outerchr3:132441100..132441700hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994767
SamplesKWS1
Known GenesNPHP3, NPHP3-ACAD11, NPHP3-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144051
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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