A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1969



Internal ID15199846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8780681..8825867hg38UCSC Ensembl
Outerchr17:8683999..8729184hg19UCSC Ensembl
Outerchr17:8624724..8669909hg18UCSC Ensembl
Outerchr17:8624724..8669909hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3845187
hg1945186
hg1845186
hg1745186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7306
SamplesNA12156
Known GenesMFSD6L, PIK3R6
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)nsv1969
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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