A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515803



Internal ID15442860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130413013..130413665hg38UCSC Ensembl
Innerchr3:130131857..130132509hg19UCSC Ensembl
Innerchr3:131614547..131615199hg18UCSC Ensembl
Innerchr3:131614555..131615207hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38653
hg19653
hg18653
hg17653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684679, nssv681222, nssv664827, nssv680654, nssv671588, nssv667029, nssv669118, nssv662906, nssv692064
Samples
Known GenesCOL6A5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515803
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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