A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275003



Internal ID22141033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6819497..6833468hg38UCSC Ensembl
Outerchr10:6861459..6875430hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3813972
hg1913972
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222924
Supporting Variants
SamplesHG00513
Known GenesLINC00707
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275003
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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