A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962272



Internal ID18867790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49877509..49877618hg38UCSC Ensembl
Outerchr12:50271292..50271401hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125546
Supporting Variants
SamplesKWS1
Known GenesFAIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962272
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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