A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267802



Internal ID22271268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:147492205..147496894hg38UCSC Ensembl
Outerchr1:146964021..146968704hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216879
Supporting Variants
SamplesNA19239
Known GenesLINC00624
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267802
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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