A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv914543



Internal ID6276470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50878927..51165664hg19UCSC Ensembl
Outerchr22:50874352..51171693hg19UCSC Ensembl
Innerchr22:49225793..49512530hg18UCSC Ensembl
Outerchr22:49221218..49518559hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1593473
SamplesIS39417
Known GenesADM2, ARSA, C22orf41, CHKB, CHKB-CPT1B, CPT1B, KLHDC7B, LMF2, LOC100144603, MAPK8IP2, MIOX, NCAPH2, ODF3B, PPP6R2, SBF1, SCO2, SHANK3, TYMP
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv914543
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer