A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202174



Internal ID22351374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:99486309..99497236hg38UCSC Ensembl
Outerchr2:100102771..100113698hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3810928
hg1910928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264632, nssv14264633, nssv14264634, nssv14264636, nssv14264637, nssv14264635
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesREV1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202174
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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