A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170286



Internal ID21314347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19139250..19433594hg38UCSC Ensembl
Outerchr8:19139006..19434960hg38UCSC Ensembl
Innerchr8:18996760..19291105hg19UCSC Ensembl
Outerchr8:18996516..19292471hg19UCSC Ensembl
Innerchr8:19041040..19335385hg18UCSC Ensembl
Outerchr8:19040796..19336751hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38295955
hg19295956
hg18295956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14247282
SamplesPML_2
Known GenesCSGALNACT1, LOC100128993, SH2D4A
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170286
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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