A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18089376



Internal ID20656416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47098801..47107200hg38UCSC Ensembl
chr2:47325940..47334339hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351494
Supporting Variants
Samples
Known GenesC2orf61
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18089376
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00536


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