A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041748



Internal ID18784279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18284986..18751122hg38UCSC Ensembl
Innerchr16:18378843..18762444hg19UCSC Ensembl
Innerchr16:18286344..18669945hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38466137
hg19383602
hg18383602
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2781n100
Supporting Variantsnssv3558117, nssv3558118
Samples
Known GenesABCC6P1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041748
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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