A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625369



Internal ID15502216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69916164..69916878hg38UCSC Ensembl
Outerchr1:70381847..70382561hg19UCSC Ensembl
Outerchr1:70154435..70155149hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381189
hg191189
hg181189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512742
Supporting Variants
Samples1
Known GenesLRRC7
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625369
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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