A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548258



Internal ID16335667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178690798..178705692hg38UCSC Ensembl
Innerchr1:178659933..178674827hg19UCSC Ensembl
Innerchr1:176926556..176941450hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3814895
hg1914895
hg1814895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv638n54
Supporting Variantsnssv729122
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548258
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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