A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6412340



Internal ID21069893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116507656..116509896hg38UCSC Ensembl
chr5:115843352..115845592hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg382241
hg192241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18124088
Samples
Known GenesSEMA6A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6412340
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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