A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001361



Internal ID17294313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38453310..38456909hg38UCSC Ensembl
Outerchr3:38494801..38498400hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954465
Supporting Variants
SamplesBILGI_BIOE
Known GenesACVR2B, ACVR2B-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001361
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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