A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060196



Internal ID18802727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48497260..48544190hg38UCSC Ensembl
Innerchr16:48531171..48578101hg19UCSC Ensembl
Innerchr16:47088672..47135602hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3846931
hg1946931
hg1846931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2976n100
Supporting Variantsnssv3559247, nssv3559248
Samples
Known GenesN4BP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060196
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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