A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525578



Internal ID22394956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68242193..68242411hg38UCSC Ensembl
chr4:69107911..69108129hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6672n152
Supporting Variantsnssv14313411, nssv14313412
SamplesNA19239, NA19240
Known GenesTMPRSS11B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525578
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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