A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338365



Internal ID20995918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50346201..50347900hg38UCSC Ensembl
chr2:50573339..50575038hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209861
Samples
Known GenesNRXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338365
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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