A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196194



Internal ID20763234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8208901..8228600hg38UCSC Ensembl
chr12:8361497..8381196hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3819700
hg1919700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465782
Supporting Variants
Samples
Known GenesFAM90A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196194
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.1916


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