A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186625



Internal ID20753665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122556536..122567174hg38UCSC Ensembl
chr12:123041083..123051721hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810639
hg1910639
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492489
Supporting Variants
Samples
Known GenesKNTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186625
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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