A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1750



Internal ID15199627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17452422..17486928hg38UCSC Ensembl
Outerchr16:17546279..17580785hg19UCSC Ensembl
Outerchr16:17453780..17488286hg18UCSC Ensembl
Outerchr16:17453780..17488286hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg385524
hg195524
hg185524
hg175524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2949
SamplesNA18555
Known GenesXYLT1
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)nsv1750
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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