A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996813



Internal ID20563853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102820429..102821160hg38UCSC Ensembl
chr12:103214207..103214938hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457552
Supporting Variants
Samples
Known GenesLINC00485
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996813
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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