A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582516



Internal ID16023239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98637568..98688331hg38UCSC Ensembl
Innerchr2:99254031..99304794hg19UCSC Ensembl
Innerchr2:98620463..98671226hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3850764
hg1950764
hg1850764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv914146
Samples
Known GenesMGAT4A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582516
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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