A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046986



Internal ID18789517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4049000..5555721hg38UCSC Ensembl
Innerchr16:4099001..5605722hg19UCSC Ensembl
Innerchr16:4039002..5545723hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381506722
hg191506722
hg181506722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3556970
Samples
Known GenesADCY9, ALG1, ANKS3, C16orf71, C16orf89, C16orf96, CDIP1, CORO7, CORO7-PAM16, DNAJA3, FAM86A, GLIS2, GLYR1, HMOX2, LOC100507501, MGRN1, MIR6769A, NAGPA, NAGPA-AS1, NMRAL1, NUDT16L1, PAM16, PPL, ROGDI, SEC14L5, SEPT12, SMIM22, SRL, TFAP4, UBALD1, UBN1, VASN, ZNF500
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046986
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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