A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016963



Internal ID78973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:120724487..120725457hg38UCSC Ensembl
chr8:121736727..121737697hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38971
hg19971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486451
Supporting Variants
Samples
Known GenesSNTB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016963
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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