A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552999



Internal ID15993722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1586116..1681091hg38UCSC Ensembl
Innerchr11:1607346..1702321hg19UCSC Ensembl
Innerchr11:1563922..1658897hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3894976
hg1994976
hg1894976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv764304
Samples
Known GenesFAM99A, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-AS1, MOB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552999
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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