A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990686



Internal ID21900029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9503104..9504400hg38UCSC Ensembl
chr2:9643233..9644529hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381297
hg191297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526141
Samples
Known GenesADAM17
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990686
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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