A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712491



Internal ID136157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30591980..30621490hg38UCSC Ensembl
chr17:28918998..28948508hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3829511
hg1929511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528314
Supporting Variants
Samples
Known GenesLRRC37BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712491
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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