A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128864



Internal ID19266763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43737220..43738620hg38UCSC Ensembl
Outerchr22:44133100..44134500hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961533
SamplesKWS1
Known GenesEFCAB6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128864
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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