A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256475



Internal ID22118000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124232829..124240748hg38UCSC Ensembl
Outerchr12:124717375..124725294hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232437
Supporting Variants
SamplesHG00512
Known GenesZNF664-FAM101A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256475
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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