nsv996178

  • Variant Calls:2
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:1,860,199

Genome View

Select assembly:
Overlapping variant regions from other studies: 1970 SVs from 80 studies. See in: genome view    
Remapped(Score: Good):144,537,187-146,397,385Question Mark
Overlapping variant regions from other studies: 2423 SVs from 70 studies. See in: genome view    
Submitted genomic146,105,170-147,929,323Question Mark
Overlapping variant regions from other studies: 1172 SVs from 30 studies. See in: genome view    
Remapped(Score: Pass):144,816,527-146,395,947Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv996178RemappedGoodGRCh38 (hg38)Primary AssemblySecond PassNC_000001.11Chr1144,537,187146,397,385
nsv996178Submitted genomicGRCh37 (hg19)NC_000001.10Chr1146,105,170147,929,323
nsv996178RemappedPassNCBI36 (hg18)Primary AssemblyFirst PassNC_000001.9Chr1144,816,527146,395,947

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation LevelCopy number
nssv13639489copy number lossSNP arraySNP genotyping analysisGlobal developmental delay1
nssv3395362copy number lossSNP arraySNP genotyping analysisAutistic behavior; HyperactivityPathogenicSCV000183608classified by single submitter1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv13639489RemappedGoodNC_000001.11:g.(?_
144537187)_(146397
385_?)del
GRCh38 (hg38)Primary AssemblySecond PassNC_000001.11Chr1144,537,187146,397,385
nssv3395362RemappedGoodNC_000001.11:g.(?_
144537187)_(146397
385_?)del
GRCh38 (hg38)Primary AssemblySecond PassNC_000001.11Chr1144,537,187146,397,385
nssv13639489Submitted genomicNC_000001.10:g.(?_
146105170)_(147929
323_?)del
GRCh37 (hg19)NC_000001.10Chr1146,105,170147,929,323
nssv3395362Submitted genomicNC_000001.10:g.(?_
146105170)_(147929
323_?)del
GRCh37 (hg19)NC_000001.10Chr1146,105,170147,929,323
nssv13639489RemappedPassNC_000001.9:g.(?_1
44816527)_(1463959
47_?)del
NCBI36 (hg18)Primary AssemblyFirst PassNC_000001.9Chr1144,816,527146,395,947
nssv3395362RemappedPassNC_000001.9:g.(?_1
44816527)_(1463959
47_?)del
NCBI36 (hg18)Primary AssemblyFirst PassNC_000001.9Chr1144,816,527146,395,947

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv1363948962Sample data available in dbGaPFISHManual observationPass
nssv339536262Sample data available in dbGaPFISHManual observationPass

Clinical Assertions

Variant Call IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationClinVar Curation LevelCopy number
nssv3395362SCV000183608NC_000001.10:g.(?_146105170)_(147929323_?)delcopy number lossde novoAutistic behavior; HyperactivityPathogenicclassified by single submitter1

No genotype data were submitted for this variant

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