A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892869



Internal ID22667925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75463856..75467173hg38UCSC Ensembl
chr5:74759681..74762998hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383318
hg193318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427122
Samples
Known GenesCOL4A3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892869
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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