A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272490



Internal ID22122075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235546162..235554530hg38UCSC Ensembl
Outerchr1:235709462..235717830hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212135
Supporting Variants
SamplesHG00512
Known GenesGNG4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272490
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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