A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118892



Internal ID18921166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207769576..207769976hg38UCSC Ensembl
Outerchr2:208634300..208634700hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981213
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118892
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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