A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003227



Internal ID20570267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70998010..71006405hg38UCSC Ensembl
chr12:71391790..71400185hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg388396
hg198396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473284
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003227
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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