A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970199



Internal ID47462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139727495..139735783hg38UCSC Ensembl
chr6:140048632..140056920hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg388289
hg198289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472525
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970199
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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