A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548650



Internal ID15989373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192277460..192355045hg38UCSC Ensembl
Innerchr1:192246590..192324175hg19UCSC Ensembl
Innerchr1:190513213..190590798hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3877586
hg1977586
hg1877586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv715n54
Supporting Variantsnssv732809, nssv732810
Samples
Known GenesRGS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548650
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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