A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274714



Internal ID22198330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:19766275..19791971hg38UCSC Ensembl
Outerchr1:20092768..20118464hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216815
Supporting Variants
SamplesHG00732
Known GenesTMCO4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274714
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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