A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438897



Internal ID217447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220144354..220144466hg38UCSC Ensembl
chr1:220317696..220317808hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896293
Samples
Known GenesIARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438897
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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