A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976008



Internal ID22750943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53724195..53724195hg38UCSC Ensembl
chr12:54117979..54117979hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350532
Samples
Known GenesCALCOCO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976008
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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