A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971752



Internal ID18895868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122213174..122214965hg38UCSC Ensembl
Outerchr12:122697721..122699512hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381792
hg191792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134269
Supporting Variants
SamplesKWS2
Known GenesDIABLO
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971752
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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