A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519126



Internal ID15446419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:79331247..79373681hg38UCSC Ensembl
InnerchrX:78586744..78629178hg19UCSC Ensembl
InnerchrX:78473400..78515834hg18UCSC Ensembl
InnerchrX:78392889..78435323hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3842435
hg1942435
hg1842435
hg1742435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696604
Samples
Known GenesITM2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519126
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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