A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948678



Internal ID22724155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39822506..39822506hg38UCSC Ensembl
chr8:39680025..39680025hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17437341
Samples
Known GenesADAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948678
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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