A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207635



Internal ID22355993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247471330..247471590hg38UCSC Ensembl
chr1:247634632..247634892hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323136, nssv14323134, nssv14323135
SamplesHG00512, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207635
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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