A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350532



Internal ID22576201
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 StatusS
Merged Variantsnsv5976008
Supporting Variants
Samples
Known GenesCALCOCO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350532
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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