A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031331



Internal ID19120553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47250820..47326571hg38UCSC Ensembl
Innerchr8:48163412..48239160hg19UCSC Ensembl
Innerchr8:48325965..48401713hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3875752
hg1975749
hg1875749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7211n100
Supporting Variantsnssv3757250
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)nsv1031331
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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