A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030921



Internal ID19120141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389144..39540213hg38UCSC Ensembl
Innerchr8:39246663..39397732hg19UCSC Ensembl
Innerchr8:39365820..39516889hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38151070
hg19151070
hg18151070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7175n100
Supporting Variantsnssv3687911, nssv3689019
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)nsv1030921
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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