A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257018



Internal ID22118172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:127535517..127572716hg38UCSC Ensembl
Outerchr12:128020062..128057261hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381806
hg191806
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244427
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257018
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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