A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421759



Internal ID200822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156234651..156235222hg38UCSC Ensembl
chr1:156204442..156205013hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891278
Samples
Known GenesPMF1, PMF1-BGLAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421759
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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