A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970866



Internal ID22745801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104775163..104775163hg38UCSC Ensembl
chr12:105168941..105168941hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361510
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970866
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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