A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449646



Internal ID227878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64676639..64677687hg38UCSC Ensembl
chr3:64662315..64663363hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933932
Samples
Known GenesADAMTS9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449646
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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