A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197648



Internal ID22347500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:84650383..84653692hg38UCSC Ensembl
chr3:84699534..84702843hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg383310
hg193310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14307824, nssv14307825, nssv14307827, nssv14307826
SamplesNA19238, HG00731, NA19240, HG00733
Known GenesLINC00971
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197648
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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