A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999703



Internal ID19188321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119996076..120006077hg38UCSC Ensembl
Outerchr1:120538699..120548700hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3810002
hg1910002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152523
Supporting Variants
SamplesKWB1
Known GenesNOTCH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999703
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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