A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2457



Internal ID15547020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29878718..29918869hg38UCSC Ensembl
Outerchr19:30369625..30409776hg19UCSC Ensembl
Outerchr19:35061465..35101616hg18UCSC Ensembl
Outerchr19:35061465..35101616hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3840152
hg1940152
hg1840152
hg1740152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4350, nssv1447, nssv10183, nssv5738, nssv2215, nssv7435
SamplesNA12156, NA12878, NA18956, NA18555, NA19240, NA19129
Known Genes
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)nsv2457
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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