A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17038631



Internal ID93496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79532368..79679000hg38UCSC Ensembl
chr10:81292124..81438756hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38146633
hg19146633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476976
Supporting Variants
Samples
Known GenesSFTPA1, SFTPA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17038631
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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