A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281636



Internal ID22186605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:510489..533626hg38UCSC Ensembl
Outerchr10:556429..579566hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248422
Supporting Variants
SamplesHG00731
Known GenesDIP2C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281636
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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