A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345289



Internal ID21002842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50685342..50846529hg38UCSC Ensembl
chr2:50912480..51073667hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38161188
hg19161188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3866n223
Supporting Variantsnssv18087157
Samples
Known GenesNRXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345289
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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