A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020940



Internal ID19110158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39398530..39495091hg38UCSC Ensembl
Innerchr8:39256049..39352610hg19UCSC Ensembl
Innerchr8:39375206..39471767hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3896562
hg1996562
hg1896562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7167n100
Supporting Variantsnssv3685803, nssv3685802
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)nsv1020940
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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