A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140249



Internal ID339442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:140426463..140432135hg38UCSC Ensembl
chr2:141184032..141189704hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg385673
hg195673
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920703
Samples
Known GenesLRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140249
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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