A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040428



Internal ID18782959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:10145408..11362136hg38UCSC Ensembl
Innerchr16:10239265..11455993hg19UCSC Ensembl
Innerchr16:10146766..11363494hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg381216729
hg191216729
hg181216729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3557125
Samples
Known GenesATF7IP2, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, NUBP1, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TNP2, TVP23A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040428
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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