A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1992



Internal ID15546555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15410748..15441891hg38UCSC Ensembl
Outerchr17:15314065..15345205hg19UCSC Ensembl
Outerchr17:15254790..15285930hg18UCSC Ensembl
Outerchr17:15254790..15285930hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg389839
hg199839
hg189839
hg179839
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1350
SamplesNA19240
Known GenesCDRT4, TVP23C-CDRT4
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)nsv1992
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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