A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv915495



Internal ID6277422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50018497..51146139hg19UCSC Ensembl
Outerchr22:50017234..51147015hg19UCSC Ensembl
Innerchr22:48404501..49493005hg18UCSC Ensembl
Outerchr22:48403238..49493881hg18UCSC 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 Variantsnssv1575252
SamplesIS33684
Known GenesADM2, ALG12, ARSA, BRD1, C22orf34, C22orf41, CHKB, CHKB-CPT1B, CPT1B, CRELD2, FAM116B, HDAC10, IL17REL, KLHDC7B, LMF2, LOC100144603, LOC90834, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, ODF3B, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELO, SHANK3, TRABD, TUBGCP6, TYMP, ZBED4
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv915495
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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