A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6398744



Internal ID21056297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138112975..138115350hg38UCSC Ensembl
chr5:137448664..137451039hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382376
hg192376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125323
Samples
Known GenesNME5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6398744
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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