A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6378546



Internal ID21036099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40247801..40249600hg38UCSC Ensembl
chr5:40247903..40249702hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18131481
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6378546
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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