A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327918



Internal ID20861062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230977801..230979200hg38UCSC Ensembl
chr1:231113547..231114946hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202773
Samples
Known GenesARV1, TTC13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327918
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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