A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989915



Internal ID18890789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:43045361..43046061hg38UCSC Ensembl
Outerchr2:43272500..43273200hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136298
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989915
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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