A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542515



Internal ID22411592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57190356..57190428hg38UCSC Ensembl
chr20:55765412..55765484hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5320n152
Supporting Variantsnssv14300374, nssv14300376, nssv14300377, nssv14300375
SamplesHG00512, HG00731, HG00513, HG00514
Known GenesBMP7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542515
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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