A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704874



Internal ID15441526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:68164373..68173299hg38UCSC Ensembl
InnerchrX:67384215..67393141hg19UCSC Ensembl
InnerchrX:67300940..67309866hg18UCSC Ensembl
InnerchrX:67167236..67176162hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg388927
hg198927
hg188927
hg178927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517446
Supporting Variants
Samples
Known GenesOPHN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704874
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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