A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528034



Internal ID304107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19557558..19557912hg38UCSC Ensembl
chr17:19460871..19461225hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712011
Samples
Known GenesSLC47A1, SNORA59A, SNORA59B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528034
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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