A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869470



Internal ID22644405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53772403..53783013hg38UCSC Ensembl
chr2:53999540..54010150hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3810611
hg1910611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408598
Samples
Known GenesASB3, CHAC2, GPR75-ASB3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869470
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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