A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000427



Internal ID19193345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143276001..143288286hg38UCSC Ensembl
Outerchr1:149021799..149035900hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3812286
hg1914102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148393
Supporting Variants
SamplesKWB1
Known GenesLOC101929780
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000427
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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