A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961209



Internal ID22736167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64517416..64517416hg38UCSC Ensembl
chr3:64503092..64503092hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410627
Samples
Known GenesADAMTS9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961209
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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