A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521457



Internal ID15448750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31562420..31615975hg38UCSC Ensembl
InnerchrX:31580537..31634092hg19UCSC Ensembl
InnerchrX:31490458..31544013hg18UCSC Ensembl
InnerchrX:31340194..31393749hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3853556
hg1953556
hg1853556
hg1753556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694448
Samples
Known GenesDMD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521457
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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