A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7468



Internal ID15205794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154310039..154424073hg38UCSC Ensembl
OuterchrX:153538391..153652415hg19UCSC Ensembl
OuterchrX:153191585..153305609hg18UCSC Ensembl
OuterchrX:153059238..153173262hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38114035
hg19114025
hg18114025
hg17114025
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9785, nssv939, nssv5274, nssv938, nssv11232, nssv9258, nssv11231, nssv9259, nssv5275, nssv9786
SamplesNA18507, NA15510, NA18517, NA19240, NA19129
Known GenesDNASE1L1, EMD, FLNA, RPL10, SNORA70, TAZ, TKTL1
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)nsv7468
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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