A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1708



Internal ID15546271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1228093..1263588hg38UCSC Ensembl
Outerchr16:1278093..1313589hg19UCSC Ensembl
Outerchr16:1218094..1253590hg18UCSC Ensembl
Outerchr16:1218094..1253590hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3835496
hg1935497
hg1835497
hg1735497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5582
SamplesNA19129
Known GenesTPSAB1, TPSB2, TPSD1
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)nsv1708
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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