A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6074434



Internal ID21983667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34053857..34053857hg38UCSC Ensembl
chr5:34053962..34053962hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17549547
Samples
Known GenesC1QTNF3-AMACR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6074434
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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