A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125206



Internal ID20692246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141030461..141053855hg38UCSC Ensembl
chr5:140410046..140433440hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3823395
hg1923395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406042
Supporting Variants
Samples
Known GenesLOC101926905, PCDHB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125206
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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