A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3956172



Internal ID19223554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29890367..29890433hg38UCSC Ensembl
Outerchr22:30286356..30286422hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1109464
Supporting Variants
SamplesKWS1
Known GenesMTMR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3956172
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