A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686971



Internal ID110637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37851222..37858935hg38UCSC Ensembl
chr13:38425359..38433072hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg387714
hg197714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511350
Supporting Variants
Samples
Known GenesTRPC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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