A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271841



Internal ID22122173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:182290164..182313863hg38UCSC Ensembl
Outerchr1:182259299..182282998hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381437
hg191437
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219221
Supporting Variants
SamplesHG00512
Known GenesLOC400799
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271841
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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