A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522417



Internal ID15103024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92811952..92824114hg38UCSC Ensembl
Innerchr14:93278297..93290459hg19UCSC Ensembl
Innerchr14:92348050..92360212hg18UCSC Ensembl
Innerchr14:92348050..92360212hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3812163
hg1912163
hg1812163
hg1712163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705770
Samples
Known GenesGOLGA5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522417
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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