nsv996185

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:7,126,102

Genome View

Select assembly:
Overlapping variant regions from other studies: 7583 SVs from 61 studies. See in: genome view    
Remapped(Score: Perfect):38,177,999-45,304,100Question Mark
Overlapping variant regions from other studies: 7585 SVs from 62 studies. See in: genome view    
Submitted genomic38,217,601-45,343,699Question Mark
Overlapping variant regions from other studies: 5022 SVs from 32 studies. See in: genome view    
Remapped(Score: Perfect):38,184,126-45,310,224Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv996185RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000007.14Chr738,177,99945,304,100
nsv996185Submitted genomicGRCh37 (hg19)NC_000007.13Chr738,217,60145,343,699
nsv996185RemappedPerfectNCBI36 (hg18)Primary AssemblyFirst PassNC_000007.12Chr738,184,12645,310,224

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation LevelCopy number
nssv3395371copy number lossSNP arraySNP genotyping analysisGlobal developmental delay; Muscular hypotoniaPathogenicSCV000183615classified by single submitter1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv3395371RemappedPerfectNC_000007.14:g.(?_38177999)_(45304100_?)delGRCh38 (hg38)Primary AssemblyFirst PassNC_000007.14Chr738,177,99945,304,100
nssv3395371Submitted genomicNC_000007.13:g.(?_38217601)_(45343699_?)delGRCh37 (hg19)NC_000007.13Chr738,217,60145,343,699
nssv3395371RemappedPerfectNC_000007.12:g.(?_38184126)_(45310224_?)delNCBI36 (hg18)Primary AssemblyFirst PassNC_000007.12Chr738,184,12645,310,224

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv33953712Sample data available in dbGaPFISHManual observationPass

Clinical Assertions

Variant Call IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationClinVar Curation LevelCopy number
nssv3395371SCV000183615NC_000007.13:g.(?_38217601)_(45343699_?)delcopy number lossNot testedGlobal developmental delay; Muscular hypotoniaPathogenicclassified by single submitter1

There is no genotype information for this variant