A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649169



Internal ID21597474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50872747..50872747hg38UCSC Ensembl
chr12:51266530..51266530hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17081730
SamplesHG00731
Known GenesTMPRSS12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649169
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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