A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186753



Internal ID20753793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48694201..48821300hg38UCSC Ensembl
chr12:49087984..49215083hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38127100
hg19127100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6468626
Supporting Variants
Samples
Known GenesADCY6, CACNB3, CCNT1, LINC00935, MIR4701
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186753
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02751


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