A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271596



Internal ID22197824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151664469..151675585hg38UCSC Ensembl
Outerchr3:151382257..151393373hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3810532
hg1910532
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226284
Supporting Variants
SamplesHG00732
Known GenesMIR548H2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271596
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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