A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998234



Internal ID19194819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132563776..132563931hg38UCSC Ensembl
Outerchr12:133140362..133140517hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146872
Supporting Variants
SamplesKWB1
Known GenesFBRSL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998234
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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