A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764394



Internal ID19311031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132496925..132496995hg38UCSC Ensembl
Outerchr12:133073511..133073581hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1078756
Supporting Variants
SamplesKWP1
Known GenesFBRSL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764394
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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