A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543481



Internal ID317729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63494328..63494338hg38UCSC Ensembl
chr2:63721462..63721472hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914936
Samples
Known GenesWDPCP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543481
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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