A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334674



Internal ID20867861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12755001..12954100hg38UCSC Ensembl
chr1:12814950..13013926hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38199100
hg19198977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49n223
Supporting Variantsnssv18199340
Samples
Known GenesC1orf158, HNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334674
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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