A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177570



Internal ID20744610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101466550..101467869hg38UCSC Ensembl
chr12:101860328..101861647hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381320
hg191320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473098
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177570
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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