A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998723



Internal ID20565763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122210666..122214940hg38UCSC Ensembl
chr12:122695213..122699487hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384275
hg194275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476412
Supporting Variants
Samples
Known GenesDIABLO
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998723
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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