A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721950



Internal ID145616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17494320..17495484hg38UCSC Ensembl
chr19:17605129..17606293hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381165
hg191165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514086
Supporting Variants
Samples
Known GenesSLC27A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721950
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00406


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