A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457428



Internal ID15170807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15386022..18071186hg38UCSC Ensembl
Innerchr16:15479879..18165043hg19UCSC Ensembl
Innerchr16:15387380..18072544hg18UCSC Ensembl
Innerchr16:15387380..18072544hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382685165
hg192685165
hg182685165
hg172685165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534621
Samples1780862014_A
Known GenesABCC1, ABCC6, C16orf45, FOPNL, KIAA0430, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR484, MIR6506, MIR6511A-2, MIR6770-2, MPV17L, MYH11, NDE1, NOMO3, NPIPA7, NPIPA8, PKD1P1, XYLT1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv457428
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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