A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537251



Internal ID312577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73977382..73977397hg38UCSC Ensembl
chr2:74204509..74204524hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914067
Samples
Known GenesDGUOK-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537251
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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