A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554033



Internal ID16341442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:38227656..38294034hg38UCSC Ensembl
Innerchr11:38249206..38315584hg19UCSC Ensembl
Innerchr11:38205782..38272160hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3866379
hg1966379
hg1866379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1749n54
Supporting Variantsnssv771092, nssv1174625, nssv771091, nssv771090, nssv1174626, nssv1174624
SamplesNINDS_228, 1780854299_A, 1780862470_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554033
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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