A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975076



Internal ID22750011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103918263..103918263hg38UCSC Ensembl
chr12:104312041..104312041hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363269
Samples
Known GenesGNN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975076
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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