A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6415002



Internal ID21072555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134153288..134157037hg38UCSC Ensembl
chr5:133488979..133492728hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383750
hg193750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18127222
Samples
Known GenesSKP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6415002
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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