A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2513



Internal ID15547076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47875396..47980047hg38UCSC Ensembl
Outerchr19:48378653..48483304hg19UCSC Ensembl
Outerchr19:53070465..53175116hg18UCSC Ensembl
Outerchr19:53070465..53175116hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38104652
hg19104652
hg18104652
hg17104652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6792, nssv10999, nssv2232, nssv4368, nssv1458
SamplesNA12156, NA12878, NA15510, NA18555, NA19240
Known GenesBSPH1, SNAR-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, SULT2A1
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)nsv2513
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer