A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1967



Internal ID15546530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8300408..8345324hg38UCSC Ensembl
Outerchr17:8203726..8248642hg19UCSC Ensembl
Outerchr17:8144451..8189367hg18UCSC Ensembl
Outerchr17:8144451..8189367hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3844917
hg1944917
hg1844917
hg1744917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7303
SamplesNA12156
Known GenesARHGEF15, ODF4
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)nsv1967
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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