A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474999



Internal ID21132552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12348801..12352900hg38UCSC Ensembl
chr12:12501735..12505834hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185498
Samples
Known GenesMANSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474999
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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