A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978016



Internal ID19234772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9113362..9113424hg38UCSC Ensembl
Outerchr2:9253491..9253553hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125211
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978016
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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