A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016245



Internal ID19105464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39356415..39529434hg38UCSC Ensembl
Innerchr8:39213934..39386953hg19UCSC Ensembl
Innerchr8:39333091..39506110hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38173020
hg19173020
hg18173020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3685598, nssv3685600, nssv3685602, nssv3685601, nssv3685599
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)nsv1016245
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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