A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526629



Internal ID302754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4684919..4686681hg38UCSC Ensembl
chr17:4588214..4589976hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381763
hg191763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710995
Samples
Known GenesPELP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526629
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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