A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017620



Internal ID19106837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389144..39531593hg38UCSC Ensembl
Innerchr8:39246663..39389112hg19UCSC Ensembl
Innerchr8:39365820..39508269hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38142450
hg19142450
hg18142450
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7175n100
Supporting Variantsnssv3687898, nssv3687899, nssv3687901, nssv3687904, nssv3687902, nssv3687905, nssv3687897, nssv3687900, nssv3687903, nssv3687906
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)nsv1017620
Frequency
Sample Size11257
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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