A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193674



Internal ID20760714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132121050..132183296hg38UCSC Ensembl
chr12:132605595..132667841hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3862247
hg1962247
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6490508
Supporting Variants
Samples
Known GenesDDX51, EP400NL, NOC4L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193674
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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