nsv469507

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:381,261

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 1812 SVs from 81 studies. See in: genome view    
Remapped(Score: Perfect):163,190-544,450Question Mark
Overlapping variant regions from other studies: 1781 SVs from 79 studies. See in: genome view    
Remapped(Score: Pass):199,707-544,450Question Mark
Overlapping variant regions from other studies: 1198 SVs from 34 studies. See in: genome view    
Submitted genomic153,190-534,450Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nsv469507RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000009.12Chr9163,190163,190544,450544,450
nsv469507RemappedPassGRCh37 (hg19)Primary AssemblyFirst PassNC_000009.11Chr9-199,707538,588544,450
nsv469507Submitted genomicNCBI36 (hg18)NC_000009.10Chr9153,190194,193528,588534,450

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinicalZygosity
nssv544361copy number loss4-1Oligo aCGHProbe signal intensityImmunodeficiencyPathogenicHeterozygous

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nssv544361RemappedPerfectNC_000009.12:g.(16
3190_163190)_(5444
50_544450)del
GRCh38 (hg38)Primary AssemblyFirst PassNC_000009.12Chr9163,190163,190544,450544,450
nssv544361RemappedPassNC_000009.11:g.(?_
199707)_(538588_54
4450)del
GRCh37 (hg19)Primary AssemblyFirst PassNC_000009.11Chr9-199,707538,588544,450
nssv544361Submitted genomicNC_000009.10:g.(15
3190_194193)_(5285
88_534450)del
NCBI36 (hg18)NC_000009.10Chr9153,190194,193528,588534,450

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv54436134-1WesternManual observationPass

Clinical Assertions

Variant Call IDSample IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationGender
nssv5443614-1NC_000009.10:g.(153190_194193)_(528588_534450)delcopy number lossPaternalImmunodeficiencyPathogenicMale

No genotype data were submitted for this variant

Support Center