A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281292



Internal ID22314243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110688181..110723879hg38UCSC Ensembl
Outerchr9:113450461..113486159hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3835699
hg1935699
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226587
Supporting Variants
SamplesNA19240
Known GenesMUSK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281292
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer