A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348100



Internal ID21005653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38593618..38594677hg38UCSC Ensembl
chr2:38820760..38821819hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg381060
hg191060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086371
Samples
Known GenesHNRNPLL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348100
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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