A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041844



Internal ID18784375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14845471..15022388hg38UCSC Ensembl
Innerchr16:14939328..15116245hg19UCSC Ensembl
Innerchr16:14846829..15023746hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38176918
hg19176918
hg18176918
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2746n100
Supporting Variantsnssv3557576, nssv3557575, nssv3557573, nssv3557577, nssv3557574, nssv3718916, nssv3718917
Samples
Known GenesLOC100288162, MIR1972-1, MIR1972-2, 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)nsv1041844
Frequency
Sample Size29084
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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