A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5573119



Internal ID21521518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85666223..85666492hg38UCSC Ensembl
chr2:85893346..85893615hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17115621
SamplesHG00732
Known GenesSFTPB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5573119
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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