A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334039



Internal ID20867220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44967542..44968643hg38UCSC Ensembl
chr1:45433214..45434315hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18061424
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334039
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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