A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584693



Internal ID16025416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232404005..232429063hg38UCSC Ensembl
Innerchr2:233268715..233293773hg19UCSC Ensembl
Innerchr2:232976959..233002017hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3825059
hg1925059
hg1825059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933632
Samples
Known GenesALPPL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584693
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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