A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467931



Internal ID245741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34053861..34053915hg38UCSC Ensembl
chr5:34053966..34054020hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964762
Samples
Known GenesC1QTNF3-AMACR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467931
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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