A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424913



Internal ID203887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175442394..175443006hg38UCSC Ensembl
chr1:175411530..175412142hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38613
hg19613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891995
Samples
Known GenesTNR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424913
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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