A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030771



Internal ID18773302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56139927..56183459hg38UCSC Ensembl
Innerchr8:57052486..57096018hg19UCSC Ensembl
Innerchr8:57215040..57258572hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3843533
hg1943533
hg1843533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7229n100
Supporting Variantsnssv3688702
Samples
Known GenesPLAG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030771
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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