A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122243



Internal ID18922019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49908358..49908782hg38UCSC Ensembl
Outerchr22:50302006..50302430hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2480n106
Supporting Variantsnssv3969687
SamplesKWS1
Known GenesALG12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122243
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