A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049647



Internal ID18792178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15388065..18191217hg38UCSC Ensembl
Innerchr16:15481922..18285074hg19UCSC Ensembl
Innerchr16:15389423..18192575hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382803153
hg192803153
hg182803153
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3557967, nssv3557968
Samples
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
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049647
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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