A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132509



Internal ID19255496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130439327..130443127hg38UCSC Ensembl
Outerchr2:131196900..131200700hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987289
SamplesKWS1
Known GenesCYP4F62P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132509
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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