A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997595



Internal ID20564635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129108989..129109509hg38UCSC Ensembl
chr12:129593534..129594054hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494786
Supporting Variants
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997595
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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