A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548651



Internal ID15989374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192279986..192355045hg38UCSC Ensembl
Innerchr1:192249116..192324175hg19UCSC Ensembl
Innerchr1:190515739..190590798hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3875060
hg1975060
hg1875060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv715n54
Supporting Variantsnssv732816, nssv732813, nssv732811, nssv732814, nssv732815, nssv732812
Samples
Known GenesRGS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548651
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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