A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423300



Internal ID202321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179210766..179217499hg38UCSC Ensembl
chr1:179179901..179186634hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386734
hg196734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892710
Samples
Known GenesABL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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