A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532656



Internal ID308572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19673743..19679323hg38UCSC Ensembl
chr17:19577056..19582636hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg385581
hg195581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712025
Samples
Known GenesALDH3A2, SLC47A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532656
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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