A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126618



Internal ID19265221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17120610..17121110hg38UCSC Ensembl
Outerchr22:17601500..17602000hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984880
SamplesKWS1
Known GenesCECR6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126618
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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