A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267552



Internal ID22273689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24208691..24215119hg38UCSC Ensembl
Outerchr1:24535181..24541609hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381086
hg191086
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219628
Supporting Variants
SamplesNA19239
Known GenesLOC284632
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267552
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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