A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989224



Internal ID60243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:159927300..160654790hg38UCSC Ensembl
chr6:160348332..161075822hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38727491
hg19727491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461151
Supporting Variants
Samples
Known GenesAIRN, IGF2R, LOC729603, LPA, LPAL2, SLC22A1, SLC22A2, SLC22A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989224
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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