A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584685



Internal ID16025408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232341294..232450598hg38UCSC Ensembl
Innerchr2:233206004..233315308hg19UCSC Ensembl
Innerchr2:232914248..233023552hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38109305
hg19109305
hg18109305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7337n54
Supporting Variantsnssv933623, nssv933622
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584685
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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