A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999294



Internal ID19190250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132527600..132527756hg38UCSC Ensembl
Outerchr12:133104186..133104342hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146094
Supporting Variants
SamplesKWB1
Known GenesFBRSL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999294
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer