A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199352



Internal ID20766392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12790201..12935200hg38UCSC Ensembl
chr1:12850350..12995030hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38145000
hg19144681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332458
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF7, PRAMEF8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199352
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01021


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