A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121218



Internal ID18910877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:152348808..152349135hg38UCSC Ensembl
Outerchr2:153205322..153205649hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2062n106
Supporting Variantsnssv3964448
SamplesKWS2
Known GenesFMNL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121218
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