A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989771



Internal ID19238715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132539614..132540414hg38UCSC Ensembl
Outerchr12:133116200..133117000hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136164
Supporting Variants
SamplesKWS2
Known GenesFBRSL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989771
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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