A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246542



Internal ID22376448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:7518173..7539214hg38UCSC Ensembl
Outerchr10:7560135..7581176hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381032
hg191032
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281913, nssv14281907, nssv14281912, nssv14281910, nssv14281911, nssv14281908, nssv14281914, nssv14281906, nssv14281909
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246542
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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