A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527144



Internal ID15454437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:130744151..131039499hg38UCSC Ensembl
InnerchrX:129878125..130173473hg19UCSC Ensembl
InnerchrX:129705806..130001154hg18UCSC Ensembl
InnerchrX:129603660..129899008hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38295349
hg19295349
hg18295349
hg17295349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703533
Samples
Known GenesENOX2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527144
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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