A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420063



Internal ID199178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173828879..173829098hg38UCSC Ensembl
chr1:173798017..173798236hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891698
Samples
Known GenesDARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420063
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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