A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1291



Internal ID15545854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:58745877..58779134hg38UCSC Ensembl
Outerchr14:59212595..59245852hg19UCSC Ensembl
Outerchr14:58282348..58315605hg18UCSC Ensembl
Outerchr14:58282348..58315605hg17UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg388060
hg198060
hg188060
hg178060
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6596, nssv10016, nssv2073, nssv4115
SamplesNA12156, NA12878, NA18956, NA18555
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)nsv1291
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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