A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198649



Internal ID22348347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156540609..156569752hg38UCSC Ensembl
Outerchr1:156510401..156539544hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3829144
hg1929144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272065, nssv14272068, nssv14272062, nssv14272061, nssv14272064, nssv14272066, nssv14272063, nssv14272067
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesIQGAP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198649
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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