A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968559



Internal ID22743494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42996332..42996332hg38UCSC Ensembl
chr12:43390135..43390135hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367068
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968559
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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