A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475442



Internal ID21132995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70284591..70289779hg38UCSC Ensembl
chr11:70130697..70135885hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg385189
hg195189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17992613
Samples
Known GenesPPFIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475442
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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