A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950220



Internal ID34167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:62728381..62759381hg38UCSC Ensembl
chr4:63594099..63625099hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3831001
hg1931001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141256
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer