A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152322



Internal ID18849200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227325437..227328682hg38UCSC Ensembl
Outerchr2:228190153..228193398hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg383246
hg193246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996922
SamplesKWB1
Known GenesMFF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152322
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer