A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2543



Internal ID15200420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54118610..54120907hg38UCSC Ensembl
Outerchr19:54621990..54624287hg19UCSC Ensembl
Outerchr19:59313802..59316099hg18UCSC Ensembl
Outerchr19:59313802..59316099hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg386169
hg196169
hg186169
hg176169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4372
SamplesNA12878
Known GenesPRPF31
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2543
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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