A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539313



Internal ID314279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39423337..39423385hg38UCSC Ensembl
chr5:39423439..39423487hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964295
Samples
Known GenesDAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539313
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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