A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449534



Internal ID227767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135684204..135806125hg38UCSC Ensembl
chr2:136441774..136563695hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38121922
hg19121922
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918848
Samples
Known GenesLCT, R3HDM1, UBXN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449534
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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