A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318364



Internal ID20851456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234447022..234511125hg38UCSC Ensembl
chr1:234582768..234646871hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3864104
hg1964104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202389
Samples
Known GenesTARBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318364
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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