A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920728



Internal ID14603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:141425618..141483809hg38UCSC Ensembl
chr2:142183187..142241378hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3858192
hg1958192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140307
Supporting Variants
Samples
Known GenesLRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920728
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000782


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