A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118884



Internal ID19273433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:138990630..138992230hg38UCSC Ensembl
Outerchr2:139748200..139749800hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981205
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118884
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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