A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv780249



Internal ID16074205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:88126927..88152280hg38UCSC Ensembl
Innerchr11:87860095..87885448hg19UCSC Ensembl
Innerchr11:87499743..87525096hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3825354
hg1925354
hg1825354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv555717
Supporting Variants
Samples
Known GenesRAB38
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv780249
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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