A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246300



Internal ID21301737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111386515..111390605hg38UCSC Ensembl
Outerchr1:111385772..111390609hg38UCSC Ensembl
Innerchr1:111929137..111933227hg19UCSC Ensembl
Outerchr1:111928394..111933231hg19UCSC Ensembl
Innerchr1:111730660..111734750hg18UCSC Ensembl
Outerchr1:111729917..111734754hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg384838
hg194838
hg184838
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169434
Supporting Variants
SamplesMLY_1
Known GenesPGCP1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246300
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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