A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210222



Internal ID20777262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121625271..122343784hg38UCSC Ensembl
chr4:122546426..123264939hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38718514
hg19718514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6382275
Supporting Variants
Samples
Known GenesANXA5, BBS7, CCNA2, EXOSC9, KIAA1109, PP12613, TMEM155, TRPC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210222
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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