A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968067



Internal ID22743002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62659269..62659269hg38UCSC Ensembl
chr12:63053049..63053049hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351721
Samples
Known GenesPPM1H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968067
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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