A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987073



Internal ID18858379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:146186094..148977674hg38UCSC Ensembl
Outerchr1:144906800..145252100hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382791581
hg19345301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132304
Supporting Variants
SamplesKWS1
Known GenesLOC100288142, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987073
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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