A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988279



Internal ID18862301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:48068913..48069050hg38UCSC Ensembl
Outerchr4:48070930..48071067hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125808
Supporting Variants
SamplesKWS1
Known GenesTXK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988279
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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