A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556251



Internal ID15996974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106915897..106918150hg38UCSC Ensembl
Innerchr11:106786623..106788876hg19UCSC Ensembl
Innerchr11:106291833..106294086hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg382254
hg192254
hg182254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2159n54
Supporting Variantsnssv783623, nssv783624, nssv783622
Samples
Known GenesGUCY1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556251
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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