A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2233



Internal ID15541516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47954114..47967822hg38UCSC Ensembl
Outerchr19:48457371..48471079hg19UCSC Ensembl
Outerchr19:53149183..53162891hg18UCSC Ensembl
Outerchr19:53149183..53162891hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3818715
hg1918715
hg1818715
hg1718715
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2515
Supporting Variants
SamplesNA18555
Known GenesSNAR-C1, SNAR-C2, 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)nssv2233
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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