A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513294



Internal ID15852716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3145031..3147251hg38UCSC Ensembl
Outerchr6:3145265..3147485hg19UCSC Ensembl
Outerchr6:3090264..3092484hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg382221
hg192221
hg182221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626804
Samples1
Known GenesBPHL
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513294
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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