A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250250



Internal ID21305339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52994359..53020581hg38UCSC Ensembl
Outerchr3:52989195..53024632hg38UCSC Ensembl
Innerchr3:53028375..53054597hg19UCSC Ensembl
Outerchr3:53023211..53058648hg19UCSC Ensembl
Innerchr3:53003415..53029637hg18UCSC Ensembl
Outerchr3:52998251..53033688hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3835438
hg1935438
hg1835438
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169533
Supporting Variants
SamplesNGO_2
Known GenesSFMBT1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250250
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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