A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2515



Internal ID15547078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47941619..47979206hg38UCSC Ensembl
Outerchr19:48444876..48482463hg19UCSC Ensembl
Outerchr19:53136688..53174275hg18UCSC Ensembl
Outerchr19:53136688..53174275hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3822459
hg1922459
hg1822459
hg1722459
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11000, nssv2233, nssv1460, nssv4367, nssv10192, nssv6795, nssv5751, nssv3000, nssv9338, nssv6794
SamplesNA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesBSPH1, SNAR-A12, SNAR-A13, SNAR-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)nsv2515
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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