A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242909



Internal ID21307656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12358500..12384646hg38UCSC Ensembl
Outerchr8:12340745..12385006hg38UCSC Ensembl
Innerchr8:12216009..12242155hg19UCSC Ensembl
Outerchr8:12198254..12242515hg19UCSC Ensembl
Innerchr8:12260380..12286526hg18UCSC Ensembl
Outerchr8:12242625..12286886hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3844262
hg1944262
hg1844262
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170296
Supporting Variants
SamplesNGO_36
Known GenesFAM66A, LOC649352
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242909
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