A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018372



Internal ID19107589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389144..39530768hg38UCSC Ensembl
Innerchr8:39246663..39388287hg19UCSC Ensembl
Innerchr8:39365820..39507444hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38141625
hg19141625
hg18141625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7175n100
Supporting Variantsnssv3687891, nssv3687895, nssv3687894, nssv3687893, nssv3687892
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018372
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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