A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6410111



Internal ID21067664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128405818..128531771hg38UCSC Ensembl
chr5:127741511..127867464hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38125954
hg19125954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18124371
Samples
Known GenesFBN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6410111
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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