A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169757



Internal ID21313568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142348262..143133551hg38UCSC Ensembl
Outerchr8:142343470..143137133hg38UCSC Ensembl
Innerchr8:143429623..144214968hg19UCSC Ensembl
Outerchr8:143424831..144218550hg19UCSC Ensembl
Innerchr8:143427530..144286343hg18UCSC Ensembl
Outerchr8:143422738..144289925hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38793664
hg19793720
hg18867188
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14244155
SamplesPML_3
Known GenesARC, BAI1, C8orf31, CDC42P3, CYP11B1, CYP11B2, GML, JRK, LOC100133669, LOC100288181, LY6D, LY6E, LY6K, LYNX1, LYPD2, PSCA, SLURP1, THEM6, TSNARE1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169757
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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