nsv995865

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:12,865,333

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 32552 SVs from 93 studies. See in: genome view    
Remapped(Score: Perfect):176,756,632-189,621,964Question Mark
Overlapping variant regions from other studies: 32554 SVs from 93 studies. See in: genome view    
Submitted genomic177,677,786-190,543,118Question Mark
Overlapping variant regions from other studies: 14480 SVs from 38 studies. See in: genome view    
Remapped(Score: Perfect):177,914,780-190,780,112Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv995865RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000004.12Chr4176,756,632189,621,964
nsv995865Submitted genomicGRCh37 (hg19)NC_000004.11Chr4177,677,786190,543,118
nsv995865RemappedPerfectNCBI36 (hg18)Primary AssemblyFirst PassNC_000004.10Chr4177,914,780190,780,112

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation LevelCopy numberOther Calls in this Sample and Study
nssv3395086copy number lossABC14969SNP arraySNP genotyping analysisAutistic behaviorLikely pathogenicSCV000183292classified by single submitter15

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv3395086RemappedPerfectNC_000004.12:g.(?_
176756632)_(189621
964_?)del
GRCh38 (hg38)Primary AssemblyFirst PassNC_000004.12Chr4176,756,632189,621,964
nssv3395086Submitted genomicNC_000004.11:g.(?_
177677786)_(190543
118_?)del
GRCh37 (hg19)NC_000004.11Chr4177,677,786190,543,118
nssv3395086RemappedPerfectNC_000004.10:g.(?_
177914780)_(190780
112_?)del
NCBI36 (hg18)Primary AssemblyFirst PassNC_000004.10Chr4177,914,780190,780,112

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv339508662ABC14969FISHManual observationPass

Clinical Assertions

Variant Call IDSample IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationClinVar Curation LevelGenderAgeCopy numberOther Calls in this Sample and Study
nssv3395086ABC14969SCV000183292NC_000004.11:g.(?_177677786)_(190543118_?)delcopy number lossNot testedAutistic behaviorLikely pathogenicclassified by single submitterMale74 months15

No genotype data were submitted for this variant

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