A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6406543



Internal ID21064096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73046103..73048915hg38UCSC Ensembl
chr5:72341930..72344742hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382813
hg192813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18132184
Samples
Known GenesFCHO2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6406543
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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