A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6328023



Internal ID20861167
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 StatusM
Merged Variantsdgv50n223
Supporting Variantsnssv18199341
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6328023
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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