A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14381144



Internal ID22286378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139424842..139425207hg38UCSC Ensembl
chr7:139109588..139109953hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3288565
Supporting Variants
SamplesNA19240
Known GenesLOC100129148
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14381144
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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