A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6087619



Internal ID21996852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50872782..50872782hg38UCSC Ensembl
chr12:51266565..51266565hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17614302
Samples
Known GenesTMPRSS12
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6087619
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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