A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003039



Internal ID16949305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:147846632..147862231hg38UCSC Ensembl
Outerchr2:148604201..148619800hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3815600
hg1915600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955261
Supporting Variants
SamplesBILGI_BIOE
Known GenesACVR2A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003039
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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