nsv530241

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:27,456,216

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 28489 SVs from 74 studies. See in: genome view    
Remapped(Score: Perfect):11,463,328-38,919,543Question Mark
Overlapping variant regions from other studies: 28501 SVs from 74 studies. See in: genome view    
Remapped(Score: Perfect):11,504,802-38,961,034Question Mark
Overlapping variant regions from other studies: 18321 SVs from 36 studies. See in: genome view    
Submitted genomic11,479,802-38,936,038Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv530241RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000003.12Chr311,463,32838,919,543
nsv530241RemappedPerfectGRCh37 (hg19)Primary AssemblyFirst PassNC_000003.11Chr311,504,80238,961,034
nsv530241Submitted genomicNCBI36 (hg18)NC_000003.10Chr311,479,80238,936,038

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation LevelCopy number
nssv578940copy number gainOligo aCGHProbe signal intensityDevelopmental delay AND/OR other significant developmental or morphological phenotypesPathogenicSCV000079068classified by single submitter3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv578940RemappedPerfectNC_000003.12:g.(?_
11463328)_(3891954
3_?)dup
GRCh38 (hg38)Primary AssemblyFirst PassNC_000003.12Chr311,463,32838,919,543
nssv578940RemappedPerfectNC_000003.11:g.(?_
11504802)_(3896103
4_?)dup
GRCh37 (hg19)Primary AssemblyFirst PassNC_000003.11Chr311,504,80238,961,034
nssv578940Submitted genomicNC_000003.10:g.(?_
11479802)_(3893603
8_?)dup
NCBI36 (hg18)NC_000003.10Chr311,479,80238,936,038

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationClinVar Curation LevelCopy number
nssv578940SCV000079068NC_000003.10:g.(?_11479802)_(38936038_?)dupcopy number gainNot testedDevelopmental delay AND/OR other significant developmental or morphological phenotypesPathogenicclassified by single submitter3

No genotype data were submitted for this variant