A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548369



Internal ID16335778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182808616..182812684hg38UCSC Ensembl
Innerchr1:182777751..182781819hg19UCSC Ensembl
Innerchr1:181044374..181048442hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg384069
hg194069
hg184069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv660n54
Supporting Variantsnssv729759, nssv729764, nssv729762, nssv729760, nssv729758, nssv729761, nssv729757, nssv729763
Samples
Known GenesNPL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548369
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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