A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522410



Internal ID15103017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22788919..22801387hg38UCSC Ensembl
Innerchr14:23258128..23270596hg19UCSC Ensembl
Innerchr14:22327968..22340436hg18UCSC Ensembl
Innerchr14:22327968..22340436hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3812469
hg1912469
hg1812469
hg1712469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695192
Samples
Known GenesSLC7A7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522410
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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