A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493649



Internal ID270820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:95495610..95495708hg38UCSC Ensembl
chr9:98257892..98257990hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027469
Samples
Known GenesPTCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493649
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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