A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199331



Internal ID22348930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75550509..75586101hg38UCSC Ensembl
chr2:75777635..75813227hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3835593
hg1935593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14290767
SamplesNA19238
Known GenesEVA1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199331
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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