A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584186



Internal ID16371595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203029504..203038897hg38UCSC Ensembl
Innerchr2:203894227..203903620hg19UCSC Ensembl
Innerchr2:203602472..203611865hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg389394
hg199394
hg189394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7254n54
Supporting Variantsnssv930381, nssv930380
Samples
Known GenesNBEAL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584186
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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