A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890576



Internal ID167893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150569828..150570237hg38UCSC Ensembl
chr1:150542304..150542713hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421852
Supporting Variants
Samples
Known GenesADAMTSL4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890576
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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