A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712455



Internal ID136121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29957736..30010213hg38UCSC Ensembl
chr17:28284754..28337231hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3852478
hg1952478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527306
Supporting Variants
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712455
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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