A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274814



Internal ID22293205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:48970788..49011268hg38UCSC Ensembl
Outerchr10:50178833..50219313hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3840481
hg1940481
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210670
Supporting Variants
SamplesNA19240
Known GenesMIR4294, WDFY4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274814
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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