A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712493



Internal ID136159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30607980..30627980hg38UCSC Ensembl
chr17:28934998..28954998hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3820001
hg1920001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528439
Supporting Variants
Samples
Known GenesLRRC37BP1, SH3GL1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712493
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000313


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