A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181682



Internal ID20748722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6278201..6280000hg38UCSC Ensembl
chr12:6387367..6389166hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467678
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181682
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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