A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476976



Internal ID254575
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 StatusM
Merged Variants
Supporting Variantsnssv17038631
Samples
Known GenesSFTPA1, SFTPA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476976
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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