A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978482



Internal ID22753417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64205779..64205779hg38UCSC Ensembl
chr12:64599559..64599559hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355381
Samples
Known GenesC12orf66
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978482
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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