A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2473



Internal ID15547036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36307288..36323050hg38UCSC Ensembl
Outerchr19:36798190..36813952hg19UCSC Ensembl
Outerchr19:41490030..41505792hg18UCSC Ensembl
Outerchr19:41490030..41505792hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3820940
hg1920940
hg1820940
hg1720940
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9553
SamplesNA18507
Known GenesLINC00665, LOC100134317
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)nsv2473
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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