A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516469



Internal ID6014279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:67860095..68169416hg19UCSC Ensembl
InnerchrX:67776820..68086141hg18UCSC Ensembl
InnerchrX:67643116..67952437hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv690732, nssv655600, nssv662943, nssv668574, nssv657468, nssv660025, nssv660284, nssv681149, nssv670035
Samples
Known GenesEFNB1, STARD8
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv516469
Frequency
Sample Size2026
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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