A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969127



Internal ID19228287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:132721956..132722956hg38UCSC Ensembl
Outerchr3:132440800..132441800hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133563
Supporting Variants
SamplesKWS2
Known GenesNPHP3, NPHP3-ACAD11, NPHP3-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969127
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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