A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330012



Internal ID20863166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45417027..45420755hg38UCSC Ensembl
chr1:45882699..45886427hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383729
hg193729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18061084
Samples
Known GenesTESK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330012
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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