A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2483



Internal ID15200360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39850001..39929598hg38UCSC Ensembl
Outerchr19:40340641..40435505hg19UCSC Ensembl
Outerchr19:45032481..45127345hg18UCSC Ensembl
Outerchr19:45032481..45127345hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3879598
hg1994865
hg1894865
hg1794865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2224, nssv10188, nssv5745, nssv1453, nssv4360, nssv10997, nssv6787
SamplesNA12156, NA12878, NA18956, NA15510, NA18555, NA19240, NA19129
Known GenesFCGBP
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)nsv2483
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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