A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270643



Internal ID22146837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51682611..51712106hg38UCSC Ensembl
Outerchr3:51716627..51746122hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg381603
hg191603
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228126
Supporting Variants
SamplesHG00514
Known GenesGRM2, TEX264
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270643
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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