A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18154246



Internal ID20721286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22355701..22357600hg38UCSC Ensembl
chr7:22395320..22397219hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6606926
Supporting Variants
Samples
Known GenesRAPGEF5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18154246
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.02792


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