A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486581



Internal ID263942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107567980..107665961hg38UCSC Ensembl
chr7:107208425..107306406hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg3897982
hg1997982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004036
Samples
Known GenesBCAP29, DUS4L, SLC26A4, SLC26A4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486581
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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