A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424567



Internal ID203553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31049113..31049250hg38UCSC Ensembl
chr1:31521960..31522097hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901316
Samples
Known GenesPUM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424567
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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