A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003794



Internal ID16950060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:226152824..226153100hg38UCSC Ensembl
Outerchr2:227017540..227017816hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954187
Supporting Variants
SamplesBILGI_BIOE
Known GenesLOC646736
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003794
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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