A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279815



Internal ID22254309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:41891390..41915979hg38UCSC Ensembl
Outerchr8:41748908..41773497hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231090
Supporting Variants
SamplesNA19238
Known GenesANK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279815
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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