A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7288



Internal ID15205596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3024063..3241205hg38UCSC Ensembl
Outerchr17:2927357..3144499hg19UCSC Ensembl
Outerchr17:2874107..3091249hg18UCSC Ensembl
Outerchr17:2874107..3091249hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38217143
hg19217143
hg18217143
hg17217143
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4242, nssv9319, nssv5631
SamplesNA12878, NA18517, NA19129
Known GenesOR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1G1, RAP1GAP2
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)nsv7288
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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