A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047549



Internal ID18790080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16283793..16704794hg38UCSC Ensembl
Innerchr16:16377650..16798651hg19UCSC Ensembl
Innerchr16:16285151..16706152hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38421002
hg19421002
hg18421002
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2776n100
Supporting Variantsnssv3558034, nssv3558030, nssv3558031, nssv3558033, nssv3558035, nssv3558032
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)nsv1047549
Frequency
Sample Size29084
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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