A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049996



Internal ID18792527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77114590..77177597hg38UCSC Ensembl
Innerchr11:76825636..76888643hg19UCSC Ensembl
Innerchr11:76503284..76566291hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3863008
hg1963008
hg1863008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1233n100
Supporting Variantsnssv3519289
Samples
Known GenesCAPN5, MYO7A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049996
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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