A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253820



Internal ID22144377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1153077..1244994hg38UCSC Ensembl
Outerchr10:1199017..1287046hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg382512
hg192512
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239863
Supporting Variants
SamplesHG00514
Known GenesADARB2, LINC00200
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253820
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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