A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405751



Internal ID185093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230544795..230544846hg38UCSC Ensembl
chr2:231409510..231409561hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925758
Samples
Known GenesSP100
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405751
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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