A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482991



Internal ID15235465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34935079..35077685hg38UCSC Ensembl
Innerchr21:36307376..36449982hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38142607
hg19142607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996192
Samples
Known GenesRUNX1, RUNX1-IT1
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv482991
Frequency
Sample Size39
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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