A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350596



Internal ID22576265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54186944..54188103hg38UCSC Ensembl
chr12:54580728..54581887hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930521
Supporting Variants
Samples
Known GenesSMUG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350596
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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