A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250302



Internal ID21311185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12358500..12470324hg38UCSC Ensembl
Outerchr8:12340745..12485952hg38UCSC Ensembl
Innerchr8:12216009..12327833hg19UCSC Ensembl
Outerchr8:12198254..12343461hg19UCSC Ensembl
Innerchr8:12260380..12372204hg18UCSC Ensembl
Outerchr8:12242625..12387832hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38145208
hg19145208
hg18145208
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170296
Supporting Variants
SamplesPML_4
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)nssv14250302
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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