A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747674



Internal ID20523694
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 StatusM
Merged Variants
Supporting Variantsnssv16285363
Samples
Known GenesSFTPB
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747674
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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