A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979144



Internal ID18888049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234379073..234379142hg38UCSC Ensembl
Outerchr1:234514819..234514888hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140436
Supporting Variants
SamplesKWS2
Known GenesCOA6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979144
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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