A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983728



Internal ID18896595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49878887..49880191hg38UCSC Ensembl
Outerchr12:50272670..50273974hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125547
Supporting Variants
SamplesKWS2
Known GenesFAIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983728
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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