A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3549143



Internal ID18500738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28373144..29195838hg38UCSC Ensembl
Innerchr16:28384465..29207159hg19UCSC Ensembl
Innerchr16:28291966..29114660hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38822695
hg19822695
hg18822695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059555
Supporting Variants
Samples
Known GenesAPOBR, ATP2A1, ATXN2L, CCDC101, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC100289092, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, NUPR1, RABEP2, RRN3P2, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3549143
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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