A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421852



Internal ID200913
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 StatusM
Merged Variants
Supporting Variantsnssv16890576
Samples
Known GenesADAMTSL4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421852
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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