A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv914525



Internal ID6276452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50704661..51018911hg19UCSC Ensembl
Outerchr22:50697518..51024308hg19UCSC Ensembl
Innerchr22:49046788..49365777hg18UCSC Ensembl
Outerchr22:49039645..49371174hg18UCSC 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 Variantsnssv1586143
SamplesIS37646
Known GenesADM2, C22orf41, CHKB, CHKB-CPT1B, CPT1B, FAM116B, KLHDC7B, LMF2, LOC100144603, MAPK11, MAPK12, MIOX, NCAPH2, ODF3B, PLXNB2, PPP6R2, SBF1, SCO2, TYMP
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv914525
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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