A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554199



Internal ID15994922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:45663007..45735850hg38UCSC Ensembl
Innerchr11:45684557..45757401hg19UCSC Ensembl
Innerchr11:45641133..45713977hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3872844
hg1972845
hg1872845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv772790
Samples
Known GenesCHST1, LOC100507384, MIR7154
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554199
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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