A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001671



Internal ID17294623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2845729..2853428hg38UCSC Ensembl
Outerchr2:2849501..2857200hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg387700
hg197700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953379
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001671
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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