A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117323



Internal ID19251023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207609699..207612068hg38UCSC Ensembl
Outerchr2:208474423..208476792hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382370
hg192370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979518
SamplesKWS1
Known GenesMETTL21A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117323
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