A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998564



Internal ID20565604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2917648..2920237hg38UCSC Ensembl
chr12:3026814..3029403hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382590
hg192590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458687
Supporting Variants
Samples
Known GenesTULP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998564
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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