A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3592281



Internal ID18543876
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 StatusS
Merged Variantsnsv1064218
Supporting Variants
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)nssv3592281
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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