A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548368



Internal ID15989091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182808616..182812435hg38UCSC Ensembl
Innerchr1:182777751..182781570hg19UCSC Ensembl
Innerchr1:181044374..181048193hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg383820
hg193820
hg183820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv660n54
Supporting Variantsnssv729753, nssv729756, nssv729751, nssv729752, nssv729754, nssv729755
Samples
Known GenesNPL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548368
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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