A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040301



Internal ID19129520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14794726..14960012hg38UCSC Ensembl
Innerchr16:14888583..15053869hg19UCSC Ensembl
Innerchr16:14796084..14961370hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38165287
hg19165287
hg18165287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2744n100
Supporting Variantsnssv3557538
Samples
Known GenesABCC6P2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040301
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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