A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7108



Internal ID5089932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:135237080..135268171hg19UCSC Ensembl
OuterchrX:135064746..135095837hg18UCSC Ensembl
OuterchrX:134962600..134993691hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg195375
hg185375
hg175375
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv8787
SamplesNA12156
Known GenesFHL1
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)nsv7108
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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