A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5895424



Internal ID22670506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72361039..72361099hg38UCSC Ensembl
chr4:73226756..73226816hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411303
Samples
Known GenesADAMTS3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5895424
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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