A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227528



Internal ID22369994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:208077757..208196031hg38UCSC Ensembl
Outerchr2:208942481..209060755hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3810474
hg1910474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265124, nssv14265125, nssv14265122, nssv14265121, nssv14265120, nssv14265123, nssv14265126
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesC2orf80, CRYGA, CRYGB, CRYGC, CRYGD, LOC100507443
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227528
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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