A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524321



Internal ID300529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42596335..42601529hg38UCSC Ensembl
chr17:40748353..40753547hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg385195
hg195195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724521
Samples
Known GenesFAM134C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524321
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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