A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4367



Internal ID15539094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47947785..47956398hg38UCSC Ensembl
Outerchr19:48451042..48459655hg19UCSC Ensembl
Outerchr19:53142854..53151467hg18UCSC Ensembl
Outerchr19:53142854..53151467hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg388106
hg198106
hg188106
hg178106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2515
Supporting Variants
SamplesNA12878
Known GenesSNAR-C1, SNAR-C2, SNAR-C3, SNAR-C5
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)nssv4367
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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