A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16285363



Internal ID20494581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85666219..85666502hg38UCSC Ensembl
chr2:85893342..85893625hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4747674
Supporting Variants
Samples
Known GenesSFTPB
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16285363
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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