A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524077



Internal ID300288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32524486..32542386hg38UCSC Ensembl
chr17:30851504..30869404hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3817901
hg1917901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712658
Samples
Known GenesMYO1D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524077
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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