A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262720



Internal ID22185155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3581096..3624900hg38UCSC Ensembl
Outerchr18:3581094..3624899hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381070
hg191070
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237029
Supporting Variants
SamplesHG00731
Known GenesDLGAP1, DLGAP1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262720
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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