A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027648



Internal ID18770180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86149208..86307247hg38UCSC Ensembl
Innerchr8:87161437..87319476hg19UCSC Ensembl
Innerchr8:87230553..87388592hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38158040
hg19158040
hg18158040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7263n100
Supporting Variantsnssv3689674
Samples
Known GenesATP6V0D2, SLC7A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027648
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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