A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029418



Internal ID18771949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39372652..39512943hg38UCSC Ensembl
Innerchr8:39230171..39370462hg19UCSC Ensembl
Innerchr8:39349328..39489619hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38140292
hg19140292
hg18140292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3685668, nssv3685667, nssv3685670, nssv3685669
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)nsv1029418
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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