A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318541



Internal ID20851633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46538554..46540487hg38UCSC Ensembl
chr1:47004226..47006159hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381934
hg191934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201385
Samples
Known GenesMKNK1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318541
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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