A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1749



Internal ID15199626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17256268..17266501hg38UCSC Ensembl
Outerchr16:17350125..17360358hg19UCSC Ensembl
Outerchr16:17257626..17267859hg18UCSC Ensembl
Outerchr16:17257626..17267859hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3810234
hg1910234
hg1810234
hg1710234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7236
SamplesNA12156
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)nsv1749
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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