A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132304



Internal ID18903321
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 StatusM
Merged Variants
Supporting Variantsnssv3987073
SamplesKWS1
Known GenesLOC100288142, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132304
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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