A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247550



Internal ID21305029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382326..12562791hg38UCSC Ensembl
Outerchr8:12376891..12564499hg38UCSC Ensembl
Innerchr8:12239835..12420300hg19UCSC Ensembl
Outerchr8:12234400..12422008hg19UCSC Ensembl
Innerchr8:12284206..12464671hg18UCSC Ensembl
Outerchr8:12278771..12466379hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38187609
hg19187609
hg18187609
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170296
Supporting Variants
SamplesNGO_18
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247550
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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