A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421808



Internal ID22479678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6723315..6723365hg38UCSC Ensembl
chr5:6723428..6723478hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890802
Supporting Variants
Samples
Known GenesPAPD7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421808
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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