A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992658



Internal ID19229019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120814501..120847832hg38UCSC Ensembl
Outerchr1:147997300..148025800hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3833332
hg1928501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141150
Supporting Variants
SamplesKWS2
Known GenesNBPF8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992658
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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