A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7440



Internal ID5089458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:46769024..46871811hg19UCSC Ensembl
OuterchrX:46653968..46756755hg18UCSC Ensembl
OuterchrX:46525278..46628065hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeOTHER Inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv5217, nssv10701, nssv9479, nssv860, nssv1833, nssv3780, nssv861, nssv10700, nssv9480, nssv5216, nssv6323, nssv3779, nssv9927, nssv11214, nssv9776, nssv6324, nssv1834
SamplesNA18517, NA18507, NA15510, NA18956, NA19129, NA12156, NA12878, NA19240, NA18555
Known GenesPHF16
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv7440
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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