A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10969



Internal ID15539557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18361984..18388051hg38UCSC Ensembl
Outerchr17:18265298..18291365hg19UCSC Ensembl
Outerchr17:18206023..18232090hg18UCSC Ensembl
Outerchr17:18206023..18232090hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg389590
hg199590
hg189590
hg179590
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1998
Supporting Variants
SamplesNA15510
Known GenesEVPLL, SHMT1
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)nssv10969
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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