A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003442



Internal ID19190796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168348961..168354362hg38UCSC Ensembl
Outerchr1:168318199..168323600hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg385402
hg195402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150145
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003442
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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