A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976401



Internal ID19230702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119989577..120001077hg38UCSC Ensembl
Outerchr1:120532200..120543700hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3811501
hg1911501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115350
Supporting Variants
SamplesKWS2
Known GenesNOTCH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976401
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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