A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513532



Internal ID15506268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50980352..50981443hg38UCSC Ensembl
Outerchr19:51483608..51484699hg19UCSC Ensembl
Outerchr19:56175420..56176511hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38939
hg19939
hg18939
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625946
Samples1
Known GenesKLK7
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513532
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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