A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464169



Internal ID21121722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59560694..61000499hg38UCSC Ensembl
chr12:59954475..61394280hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381439806
hg191439806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187990
Samples
Known GenesSLC16A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464169
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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