A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048002



Internal ID18790533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16283793..16622224hg38UCSC Ensembl
Innerchr16:16377650..16716081hg19UCSC Ensembl
Innerchr16:16285151..16623582hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38338432
hg19338432
hg18338432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3558024
Samples
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048002
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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