A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504344



Internal ID281149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76867975..76869014hg38UCSC Ensembl
chr12:77261755..77262794hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381040
hg191040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689294
Samples
Known GenesCSRP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504344
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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