A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048996



Internal ID19138215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67730549..67939887hg38UCSC Ensembl
Innerchr11:67498020..67707358hg19UCSC Ensembl
Innerchr11:67254596..67463934hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38209339
hg19209339
hg18209339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1218n100
Supporting Variantsnssv3519787
Samples
Known GenesFAM86C2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048996
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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