A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127705



Internal ID19281722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3138100..3138408hg38UCSC Ensembl
Outerchr2:3141872..3142180hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956239
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127705
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