A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521432



Internal ID297726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30039048..30039098hg38UCSC Ensembl
chr17:28366066..28366116hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712458
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521432
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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