A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560214



Internal ID22429010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50872573..50872573hg38UCSC Ensembl
chr12:51266356..51266356hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365438
SamplesHG00731
Known GenesTMPRSS12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560214
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer