A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195132



Internal ID22345353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73903939..73904249hg38UCSC Ensembl
chr2:74131066..74131376hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4629n152
Supporting Variantsnssv14290744, nssv14290746, nssv14290745
SamplesNA19238, NA19239, NA19240
Known GenesACTG2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195132
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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