A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043239



Internal ID18785770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:17799890..18622082hg38UCSC Ensembl
Innerchr16:17893747..18633404hg19UCSC Ensembl
Innerchr16:17801248..18540905hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38822193
hg19739658
hg18739658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3716919
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)nsv1043239
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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