A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169434



Internal ID21313917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111386515..111387158hg38UCSC Ensembl
Outerchr1:111385772..111390609hg38UCSC Ensembl
Innerchr1:111929137..111929780hg19UCSC Ensembl
Outerchr1:111928394..111933231hg19UCSC Ensembl
Innerchr1:111730660..111731303hg18UCSC Ensembl
Outerchr1:111729917..111734754hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg384838
hg194838
hg184838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14246300, nssv14241954
SamplesMLY_1, NGO_43
Known GenesPGCP1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169434
Frequency
Sample Size93
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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