A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320619



Internal ID20853718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89843483..89844606hg38UCSC Ensembl
chr1:90309042..90310165hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381124
hg191124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205221
Samples
Known GenesLRRC8D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320619
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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