A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114867



Internal ID18933085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:118302928..118302980hg38UCSC Ensembl
Outerchr6:118624091..118624143hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975150
SamplesKWS2
Known GenesSLC35F1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114867
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