A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032993



Internal ID19122215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47254831..47333711hg38UCSC Ensembl
Innerchr8:48167423..48246277hg19UCSC Ensembl
Innerchr8:48329976..48408830hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3878881
hg1978855
hg1878855
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7211n100
Supporting Variantsnssv3687460
Samples
Known GenesSPIDR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032993
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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