A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040486



Internal ID19129705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:600788..627854hg38UCSC Ensembl
Innerchr16:650788..677854hg19UCSC Ensembl
Innerchr16:590789..617855hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3827067
hg1927067
hg1827067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3556945
Samples
Known GenesRAB40C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040486
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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