A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6780



Internal ID5086581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3548684..3574632hg19UCSC Ensembl
OuterchrX:3558684..3584632hg18UCSC Ensembl
OuterchrX:3542045..3567993hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1819, nssv6305
SamplesNA12156, NA18555
Known GenesPRKX
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)nsv6780
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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