A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818024



Internal ID6109309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:46768969..46910110hg19UCSC Ensembl
InnerchrX:46653913..46795054hg18UCSC Ensembl
InnerchrX:46525223..46666364hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1417802
SamplesNA12234
Known GenesPHF16
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformIllumina HumanHap550 Bead Chip
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nsv818024
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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