A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998894



Internal ID19191120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120006276..120065086hg38UCSC Ensembl
Outerchr1:120548899..120607700hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3858811
hg1958802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150110
Supporting Variants
SamplesKWB1
Known GenesNOTCH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998894
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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