A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973977



Internal ID22748912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126201771..126201771hg38UCSC Ensembl
chr12:126686317..126686317hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351303
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973977
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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