A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723222



Internal ID146888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37907098..37977136hg38UCSC Ensembl
chr19:38397738..38467776hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg3870039
hg1970039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527693
Supporting Variants
Samples
Known GenesSIPA1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723222
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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