A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2545



Internal ID15200422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54122949..54142607hg38UCSC Ensembl
Outerchr19:54626328..54646343hg19UCSC Ensembl
Outerchr19:59318140..59338155hg18UCSC Ensembl
Outerchr19:59318140..59338155hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg388546
hg198546
hg188546
hg178546
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6799
SamplesNA12156
Known GenesCNOT3, PRPF31
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)nsv2545
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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