A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265534



Internal ID22120886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:182297157..182306717hg38UCSC Ensembl
Outerchr1:182266292..182275852hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212228
Supporting Variants
SamplesHG00512
Known GenesLOC400799
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265534
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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