A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199341



Internal ID20766381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12768401..12899600hg38UCSC Ensembl
chr1:12828552..12959431hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38131200
hg19130880
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328023
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199341
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00285


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