A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584687



Internal ID16025410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232347151..232450598hg38UCSC Ensembl
Innerchr2:233211861..233315308hg19UCSC Ensembl
Innerchr2:232920105..233023552hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38103448
hg19103448
hg18103448
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933627, nssv1150758, nssv1150759, nssv933625, nssv933626, nssv933628
Samples1782681263_A, HGDP01227
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584687
Frequency
Sample Size17421
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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