A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468556



Internal ID21126109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50847473..50858566hg38UCSC Ensembl
chr12:51241256..51252349hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3811094
hg1911094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189345
Samples
Known GenesTMPRSS12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468556
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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