A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250640



Internal ID21305738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12358500..12520778hg38UCSC Ensembl
Outerchr8:12340745..12532655hg38UCSC Ensembl
Innerchr8:12216009..12378287hg19UCSC Ensembl
Outerchr8:12198254..12390164hg19UCSC Ensembl
Innerchr8:12260380..12422658hg18UCSC Ensembl
Outerchr8:12242625..12434535hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38191911
hg19191911
hg18191911
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170296
Supporting Variants
SamplesNGO_22
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250640
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