A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047253



Internal ID18789784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14741198..14956129hg38UCSC Ensembl
Innerchr16:14835055..15049986hg19UCSC Ensembl
Innerchr16:14742556..14957487hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38214932
hg19214932
hg18214932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2742n100
Supporting Variantsnssv3718896
Samples
Known GenesABCC6P2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047253
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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