A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584689



Internal ID16025412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232350750..232458467hg38UCSC Ensembl
Innerchr2:233215460..233323177hg19UCSC Ensembl
Innerchr2:232923704..233031421hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38107718
hg19107718
hg18107718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7336n54
Supporting Variantsnssv1150761
Samples1780862431_A
Known GenesALPI, ALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584689
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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