A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064125



Internal ID18806656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28821353..29032542hg38UCSC Ensembl
Innerchr16:28832674..29043863hg19UCSC Ensembl
Innerchr16:28740175..28951364hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38211190
hg19211190
hg18211190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2831n100
Supporting Variantsnssv3549147
Samples
Known GenesATP2A1, ATXN2L, CD19, LAT, LOC100289092, MIR4517, MIR4721, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064125
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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