A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511721



Internal ID15504460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184845338..184851694hg38UCSC Ensembl
Outerchr1:184814472..184820828hg19UCSC Ensembl
Outerchr1:183081095..183087451hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386357
hg196357
hg186357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626363
Samples1
Known GenesFAM129A
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511721
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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