A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121247



Internal ID19270364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35249171..35250146hg38UCSC Ensembl
Outerchr22:35645164..35646139hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38976
hg19976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2457n106
Supporting Variantsnssv3964481
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121247
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