A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525429



Internal ID22394807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235135084..235135268hg38UCSC Ensembl
chr1:235298399..235298583hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14314279, nssv14314278, nssv14314280
SamplesNA19238, HG00732, NA19240
Known GenesRBM34
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525429
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