A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050373



Internal ID18792904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14869830..14993308hg38UCSC Ensembl
Innerchr16:14963687..15087165hg19UCSC Ensembl
Innerchr16:14871188..14994666hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38123479
hg19123479
hg18123479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2753n100
Supporting Variantsnssv3557580
Samples
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, PDXDC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050373
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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