A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519419



Internal ID15446712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:12609314..12643707hg38UCSC Ensembl
InnerchrX:12627433..12661826hg19UCSC Ensembl
InnerchrX:12537354..12571747hg18UCSC Ensembl
InnerchrX:12387090..12421483hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3834394
hg1934394
hg1834394
hg1734394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656109, nssv676603
Samples
Known GenesFRMPD4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519419
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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