A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1817



Internal ID15199694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:58728614..58759587hg38UCSC Ensembl
Outerchr16:58762518..58793491hg19UCSC Ensembl
Outerchr16:57320019..57350992hg18UCSC Ensembl
Outerchr16:57320019..57350992hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg388466
hg198466
hg188466
hg178466
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6672
SamplesNA12156
Known GenesGOT2
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)nsv1817
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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