A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138884



Internal ID18904201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201685208..201685277hg38UCSC Ensembl
Outerchr2:202549931..202550000hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991492
SamplesKWS2
Known GenesMPP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138884
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