A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1458



Internal ID15197561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47909161..47956354hg38UCSC Ensembl
Outerchr19:48412418..48459611hg19UCSC Ensembl
Outerchr19:53104230..53151423hg18UCSC Ensembl
Outerchr19:53104230..53151423hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3847194
hg1947194
hg1847194
hg1747194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2513
Supporting Variants
SamplesNA19240
Known GenesSNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, 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)nssv1458
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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