A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202447



Internal ID20769487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36441477..36441956hg38UCSC Ensembl
chr1:36907078..36907557hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322850
Supporting Variants
Samples
Known GenesOSCP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202447
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00024


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