A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978563



Internal ID18889058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:224809552..224809619hg38UCSC Ensembl
Outerchr2:225674269..225674336hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116001
Supporting Variants
SamplesKWS2
Known GenesDOCK10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978563
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