A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031457



Internal ID19120679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17978692..18020963hg38UCSC Ensembl
Innerchr8:17836201..17878472hg19UCSC Ensembl
Innerchr8:17880481..17922752hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3842272
hg1942272
hg1842272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7123n100
Supporting Variantsnssv3684184
Samples
Known GenesPCM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031457
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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