A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471224



Internal ID6059834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50873618..51018911hg19UCSC Ensembl
Innerchr22:49220484..49365777hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv545602, nssv545603
SamplesHGDP00825, HGDP00978
Known GenesADM2, C22orf41, CHKB, CHKB-CPT1B, CPT1B, KLHDC7B, LMF2, MIOX, NCAPH2, ODF3B, PPP6R2, SBF1, SCO2, TYMP
Method
AnalysisOverlapping CNVs were merged. The positions are based on the farthest SNPs observed anomg any individuals with the CNV.
PlatformIllumina HumanHap550 Genotyping BeadChip v1 + v3
Comments
ReferenceJakobsson et al 2008
Pubmed ID18288195
Accession Number(s)nsv471224
Frequency
Sample Size443
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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