A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548871



Internal ID16336280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:197137474..197199103hg38UCSC Ensembl
Innerchr1:197106604..197168233hg19UCSC Ensembl
Innerchr1:195373227..195434856hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3861630
hg1961630
hg1861630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734106
Samples
Known GenesASPM, ZBTB41
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548871
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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