A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893299



Internal ID169692
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 StatusS
Merged Variantsnsv5420462
Supporting Variants
Samples
Known GenesACBD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893299
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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