A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109314



Internal ID18937274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172257417..172257479hg38UCSC Ensembl
Outerchr2:173122145..173122207hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955981
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109314
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