A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197507



Internal ID22347380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:61029086..61064146hg38UCSC Ensembl
Outerchr3:61014758..61049818hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3835061
hg1935061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271749, nssv14271748
SamplesHG00731, NA19240
Known GenesFHIT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197507
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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