A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527019



Internal ID303127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32339106..32339182hg38UCSC Ensembl
chr17:30666125..30666201hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712645
Samples
Known GenesC17orf75
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527019
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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