A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528278



Internal ID304342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44428011..44428232hg38UCSC Ensembl
chr17:42505379..42505600hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713292
Samples
Known GenesGPATCH8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528278
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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