A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547413



Internal ID16334822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108806322..108806929hg38UCSC Ensembl
Innerchr1:109348944..109349551hg19UCSC Ensembl
Innerchr1:109150467..109151074hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38608
hg19608
hg18608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv487n54
Supporting Variantsnssv721118, nssv721119
Samples
Known GenesSTXBP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547413
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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