A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2830n100



Internal ID20154446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28620264..29032542hg38UCSC Ensembl
chr16:28631585..29043863hg19UCSC Ensembl
chr16:28539086..28951364hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38412279
hg19412279
hg18412279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060609, nsv1060823, nsv1060038
Samples
Known GenesATP2A1, ATXN2L, CD19, EIF3C, EIF3CL, LAT, LOC100289092, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, RABEP2, SH2B1, SPNS1, SULT1A1, TUFM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2830n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer