A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403239



Internal ID182602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85658057..85658066hg38UCSC Ensembl
chr2:85885180..85885189hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915916
Samples
Known GenesSFTPB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403239
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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