A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183952



Internal ID20750992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92403201..92410000hg38UCSC Ensembl
chr12:92796977..92803776hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6468671
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183952
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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