A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18087154



Internal ID20654194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50679072..50873280hg38UCSC Ensembl
chr2:50906210..51100418hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38194209
hg19194209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6340409
Supporting Variants
Samples
Known GenesNRXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18087154
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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