A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv914542



Internal ID6276469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50874352..51064416hg19UCSC Ensembl
Outerchr22:50873618..51068560hg19UCSC Ensembl
Innerchr22:49221218..49411282hg18UCSC Ensembl
Outerchr22:49220484..49415426hg18UCSC 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 Variantsnssv1550073
SamplesMS18276
Known GenesADM2, ARSA, C22orf41, CHKB, CHKB-CPT1B, CPT1B, KLHDC7B, LMF2, LOC100144603, MAPK8IP2, MIOX, NCAPH2, ODF3B, PPP6R2, SBF1, SCO2, TYMP
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv914542
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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