A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6823



Internal ID5090966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:18980526..19014578hg19UCSC Ensembl
OuterchrX:18890447..18924499hg18UCSC Ensembl
OuterchrX:18740183..18774235hg17UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg195373
hg185373
hg175373
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv8695
SamplesNA12156
Known GenesGPR64, PHKA2
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)nsv6823
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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