A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471124



Internal ID248868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44269173..44269231hg38UCSC Ensembl
chr4:44271190..44271248hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949800
Samples
Known GenesKCTD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471124
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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