A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511983



Internal ID15851408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101415630..101417014hg38UCSC Ensembl
Outerchr7:101058911..101060295hg19UCSC Ensembl
Outerchr7:100845631..100847015hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381385
hg191385
hg181385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624527
Samples1
Known GenesCOL26A1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511983
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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