A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420462



Internal ID199566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180431923..180437642hg38UCSC Ensembl
chr1:180401058..180406777hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385720
hg195720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893299
Samples
Known GenesACBD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420462
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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