A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6401253



Internal ID21058806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60937846..61046218hg38UCSC Ensembl
chr5:60233673..60342045hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38108373
hg19108373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18133169
Samples
Known GenesERCC8, NDUFAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6401253
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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