A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050621



Internal ID18793152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18148857..18771852hg38UCSC Ensembl
Innerchr16:18242714..18783174hg19UCSC Ensembl
Innerchr16:18150215..18690675hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38622996
hg19540461
hg18540461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2783n100
Supporting Variantsnssv3558107
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)nsv1050621
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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