A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548372



Internal ID15989095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182809232..182812684hg38UCSC Ensembl
Innerchr1:182778367..182781819hg19UCSC Ensembl
Innerchr1:181044990..181048442hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg383453
hg193453
hg183453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv660n54
Supporting Variantsnssv729767
Samples
Known GenesNPL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548372
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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