A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271815



Internal ID22124829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:27474491..27490735hg38UCSC Ensembl
Outerchr3:27515982..27532226hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg381347
hg191347
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228416
Supporting Variants
SamplesHG00512
Known GenesSLC4A7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271815
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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