A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981253



Internal ID18865811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125186254..125186954hg38UCSC Ensembl
Outerchr12:125670800..125671500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143579
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981253
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