A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394928



Internal ID22452798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50270066..50287606hg38UCSC Ensembl
chr2:50497204..50514744hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3817541
hg1917541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873057
Supporting Variants
Samples
Known GenesNRXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394928
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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