A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064218



Internal ID18806749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48472061..48792098hg38UCSC Ensembl
Innerchr22:48867873..49187910hg19UCSC Ensembl
Innerchr22:47246537..47573916hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38320038
hg19320038
hg18327380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592281
Samples
Known GenesFAM19A5, LOC284933, MIR4535
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064218
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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