A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245325



Internal ID22049935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161197551..161197551hg38UCSC Ensembl
chr1:161167341..161167341hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17838925
Samples
Known GenesADAMTS4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245325
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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