A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136444



Internal ID19256484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177660052..177660132hg38UCSC Ensembl
Outerchr2:178524780..178524860hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972832
SamplesKWS2
Known GenesPDE11A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136444
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