A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030720



Internal ID19119939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39398530..39505415hg38UCSC Ensembl
Innerchr8:39256049..39362934hg19UCSC Ensembl
Innerchr8:39375206..39482091hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38106886
hg19106886
hg18106886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7167n100
Supporting Variantsnssv3685810, nssv3685809, nssv3685807, nssv3685808
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)nsv1030720
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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