A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954223



Internal ID22729477
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 StatusM
Merged Variants
Supporting Variantsnssv17408058
Samples
Known GenesSFTPB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954223
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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