A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195301



Internal ID22345500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237880011..237880116hg38UCSC Ensembl
chr2:238788653..238788758hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5071n152
Supporting Variantsnssv14297929, nssv14297930
SamplesNA19238, NA19240
Known GenesRAMP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195301
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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