A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17408058



Internal ID22465928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85658040..85658040hg38UCSC Ensembl
chr2:85885163..85885163hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5954223
Supporting Variants
Samples
Known GenesSFTPB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17408058
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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