A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044491



Internal ID18787022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77069929..77126506hg38UCSC Ensembl
Innerchr11:76780975..76837552hg19UCSC Ensembl
Innerchr11:76458623..76515200hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3856578
hg1956578
hg1856578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3517361, nssv3516063, nssv3520599
Samples
Known GenesCAPN5, OMP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044491
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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