A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064793



Internal ID18807324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:25574781..25718318hg38UCSC Ensembl
Innerchr16:25586102..25729639hg19UCSC Ensembl
Innerchr16:25493603..25637140hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38143538
hg19143538
hg18143538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3549132
Samples
Known GenesHS3ST4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064793
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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