A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932512



Internal ID22707812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56159729..56159972hg38UCSC Ensembl
chr12:56553513..56553756hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352803
Samples
Known GenesMYL6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932512
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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