A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6397398



Internal ID21054951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139107893..139109750hg38UCSC Ensembl
chr5:138443582..138445439hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381858
hg191858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125386
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6397398
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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