A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519042



Internal ID8413317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:154082978..154601444hg38UCSC Ensembl
InnerchrX:153348431..153829693hg19UCSC Ensembl
InnerchrX:153001625..153482887hg18UCSC Ensembl
InnerchrX:152869278..153393397hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38518467
hg19481263
hg18481263
hg17524120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696511
Samples
Known GenesATP6AP1, CTAG1A, CTAG1B, DNASE1L1, EMD, FAM223A, FAM223B, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, LOC158960, MECP2, MIR6858, OPN1LW, OPN1MW, OPN1MW2, PLXNA3, RPL10, SLC10A3, SNORA70, TAZ, TEX28, TKTL1, UBL4A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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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