A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532262



Internal ID308188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49537216..49537865hg38UCSC Ensembl
chr17:47614578..47615227hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38650
hg19650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724657
Samples
Known GenesLOC100288866
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532262
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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