nsv530486

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:1,183,594

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 2389 SVs from 69 studies. See in: genome view    
Remapped(Score: Perfect):189,593,085-190,776,678Question Mark
Overlapping variant regions from other studies: 2384 SVs from 69 studies. See in: genome view    
Remapped(Score: Perfect):189,562,215-190,745,808Question Mark
Overlapping variant regions from other studies: 1154 SVs from 29 studies. See in: genome view    
Submitted genomic187,828,838-189,012,431Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv530486RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000001.11Chr1189,593,085190,776,678
nsv530486RemappedPerfectGRCh37 (hg19)Primary AssemblyFirst PassNC_000001.10Chr1189,562,215190,745,808
nsv530486Submitted genomicNCBI36 (hg18)NC_000001.9Chr1187,828,838189,012,431

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation LevelCopy number
nssv706386copy number lossOligo aCGHProbe signal intensityDevelopmental delay AND/OR other significant developmental or morphological phenotypesLikely benignSCV000175527classified by single submitter1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv706386RemappedPerfectNC_000001.11:g.(?_
189593085)_(190776
678_?)del
GRCh38 (hg38)Primary AssemblyFirst PassNC_000001.11Chr1189,593,085190,776,678
nssv706386RemappedPerfectNC_000001.10:g.(?_
189562215)_(190745
808_?)del
GRCh37 (hg19)Primary AssemblyFirst PassNC_000001.10Chr1189,562,215190,745,808
nssv706386Submitted genomicNC_000001.9:g.(?_1
87828838)_(1890124
31_?)del
NCBI36 (hg18)NC_000001.9Chr1187,828,838189,012,431

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv70638662Sample data available in dbGaPFISHManual observationPass

Clinical Assertions

Variant Call IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationClinVar Curation LevelCopy number
nssv706386SCV000175527NC_000001.9:g.(?_187828838)_(189012431_?)delcopy number lossPaternalDevelopmental delay AND/OR other significant developmental or morphological phenotypesLikely benignclassified by single submitter1

No genotype data were submitted for this variant

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