A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961064



Internal ID18875140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113091444..113091602hg38UCSC Ensembl
Outerchr12:113529249..113529407hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120268
Supporting Variants
SamplesKWS1
Known GenesDTX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961064
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