A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6492645



Internal ID21150198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117206930..117314702hg38UCSC Ensembl
chr12:117644735..117752507hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38107773
hg19107773
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184084
Samples
Known GenesNOS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6492645
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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