A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139204



Internal ID338388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64606000..64648000hg38UCSC Ensembl
chr3:64591676..64633676hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3842001
hg1942001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933926
Samples
Known GenesADAMTS9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139204
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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