A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948128



Internal ID22723618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42054252..42054252hg38UCSC Ensembl
chr8:41911770..41911770hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448620
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948128
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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