A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3687248



Internal ID18985529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42288510..42300658hg38UCSC Ensembl
Innerchr8:42146028..42158176hg19UCSC Ensembl
Innerchr8:42265185..42277333hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3812149
hg1912149
hg1812149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019861
Supporting Variants
Samples
Known GenesIKBKB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3687248
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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