A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519042



Internal ID6023721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:153348431..153829693hg19UCSC Ensembl
InnerchrX:153001625..153482887hg18UCSC Ensembl
InnerchrX:152869278..153393397hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv696511
Samples
Known GenesATP6AP1, CTAG1A, CTAG1B, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, LINC00204A, LINC00204B, MECP2, OPN1LW, OPN1MW, OPN1MW2, PLXNA3, RPL10, SLC10A3, SNORA70, TAZ, TEX28, TKTL1, UBL4A
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv519042
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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