A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030115



Internal ID19119334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389144..39505415hg38UCSC Ensembl
Innerchr8:39246663..39362934hg19UCSC Ensembl
Innerchr8:39365820..39482091hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38116272
hg19116272
hg18116272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7167n100
Supporting Variantsnssv3687630, nssv3687628, nssv3687623, nssv3687626, nssv3687620, nssv3687625, nssv3687624, nssv3687621, nssv3687629, nssv3687627, nssv3687631, nssv3687622
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)nsv1030115
Frequency
Sample Size11257
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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