A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2455



Internal ID15547018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29438015..29474404hg38UCSC Ensembl
Outerchr19:29928922..29965311hg19UCSC Ensembl
Outerchr19:34620762..34657151hg18UCSC Ensembl
Outerchr19:34620762..34657151hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3836390
hg1936390
hg1836390
hg1736390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4349, nssv5737, nssv9551, nssv6780, nssv2214, nssv1446
SamplesNA18507, NA12156, NA12878, NA18555, NA19240, NA19129
Known GenesLOC284395
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)nsv2455
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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