A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256131



Internal ID22220943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132129392..132167912hg38UCSC Ensembl
Outerchr12:132613937..132652457hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381158
hg191158
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242819
Supporting Variants
SamplesHG00733
Known GenesDDX51, NOC4L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256131
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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