A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6328575



Internal ID20861723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20212308..20397321hg38UCSC Ensembl
chr1:20538801..20723814hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38185014
hg19185014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201820
Samples
Known GenesLINC01141, VWA5B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6328575
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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