A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6396510



Internal ID21054063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139135914..139139753hg38UCSC Ensembl
chr5:138471603..138475442hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg383840
hg193840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125387
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6396510
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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