A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267103



Internal ID22206276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25524136..25547598hg38UCSC Ensembl
Outerchr1:25850627..25874089hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381072
hg191072
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217409
Supporting Variants
SamplesHG00732
Known GenesLDLRAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267103
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer