A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983722



Internal ID18897443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12116932..12116989hg38UCSC Ensembl
Outerchr12:12269866..12269923hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125541
Supporting Variants
SamplesKWS2
Known GenesLRP6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983722
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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