A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715309



Internal ID138975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9332000..10232000hg38UCSC Ensembl
chr18:9331998..10231997hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38900001
hg19900000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520806
Supporting Variants
Samples
Known GenesPPP4R1, RAB31, RALBP1, TWSG1, TXNDC2, VAPA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715309
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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