A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177326



Internal ID20744366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8208701..8245000hg38UCSC Ensembl
chr12:8361297..8397596hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3836300
hg1936300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473973
Supporting Variants
Samples
Known GenesFAM86FP, FAM90A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177326
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.19252


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