A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6380500



Internal ID21038053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34018096..34048368hg38UCSC Ensembl
chr5:34018201..34048473hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3830273
hg1930273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18129699
Samples
Known GenesC1QTNF3, C1QTNF3-AMACR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6380500
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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