A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029546



Internal ID19118765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39517627hg38UCSC Ensembl
Innerchr8:39235591..39375146hg19UCSC Ensembl
Innerchr8:39354748..39494303hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38139556
hg19139556
hg18139556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3684627, nssv3684613, nssv3684624, nssv3684626, nssv3684628, nssv3684614, nssv3684615, nssv3684622, nssv3684612, nssv3684620, nssv3684617, nssv3684623, nssv3684621, nssv3684625, nssv3684616, nssv3684618, nssv3684619, nssv3757902
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)nsv1029546
Frequency
Sample Size11257
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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