A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978020



Internal ID22752955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12914549..12914549hg38UCSC Ensembl
chr12:13067483..13067483hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362004
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978020
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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