A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16291243



Internal ID20500461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22053980..22054051hg38UCSC Ensembl
chr12:22206914..22206985hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4745270
Supporting Variants
Samples
Known GenesCMAS
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16291243
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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