A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976379



Internal ID19243589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:492837..501037hg38UCSC Ensembl
Outerchr1:318300..326500hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388201
hg198201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115327
Supporting Variants
SamplesKWS2
Known GenesLOC100132062, LOC100132287, LOC100133331
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976379
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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