A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469578



Internal ID247361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7603383..7611416hg38UCSC Ensembl
chr5:7603496..7611529hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg388034
hg198034
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16963587
Samples
Known GenesADCY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469578
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