A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271487



Internal ID22125471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43644747..43669175hg38UCSC Ensembl
Outerchr1:44110418..44134846hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228527
Supporting Variants
SamplesHG00512
Known GenesKDM4A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271487
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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