A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18047818



Internal ID20614858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38730266..38731735hg38UCSC Ensembl
chr19:39220906..39222375hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381470
hg191470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6532906
Supporting Variants
Samples
Known GenesACTN4, CAPN12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18047818
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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