A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021552



Internal ID18764086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39373128..39530768hg38UCSC Ensembl
Innerchr8:39230647..39388287hg19UCSC Ensembl
Innerchr8:39349804..39507444hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38157641
hg19157641
hg18157641
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3685026, nssv3685024, nssv3685025, nssv3685028, nssv3685030, nssv3685029, nssv3685027, nssv3685031
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)nsv1021552
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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