A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265122



Internal ID22146057
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227528
Supporting Variants
SamplesHG00514
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)nssv14265122
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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