A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396043



Internal ID175463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61114703..61114754hg38UCSC Ensembl
chr1:61580375..61580426hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906033
Samples
Known GenesNFIA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396043
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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