A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14467005



Internal ID22230697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150084377..150084456hg38UCSC Ensembl
chr5:149463940..149464019hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3287179
Supporting Variants
SamplesHG00733
Known GenesCSF1R
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14467005
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