A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469318



Internal ID247107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44289980..44367269hg38UCSC Ensembl
chr4:44291997..44369286hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3877290
hg1977290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949802
Samples
Known GenesKCTD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469318
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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