A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947994



Internal ID22723486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133387002..133387002hg38UCSC Ensembl
chr8:134399245..134399245hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17441561
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947994
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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