A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721140



Internal ID144806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8345262..8989473hg38UCSC Ensembl
chr19:8410146..9100149hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38644212
hg19690004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526569
Supporting Variants
Samples
Known GenesACTL9, ADAMTS10, ANGPTL4, HNRNPM, MARCH2, MBD3L1, MIR4999, MUC16, MYO1F, OR2Z1, PRAM1, RAB11B, RAB11B-AS1, ZNF414, ZNF558
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721140
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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