A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547941



Internal ID15988664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153736430..153828622hg38UCSC Ensembl
Innerchr1:153708906..153801098hg19UCSC Ensembl
Innerchr1:151975530..152067722hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3892193
hg1992193
hg1892193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv724862
Samples
Known GenesGATAD2B, INTS3, SLC27A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547941
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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