nsv2774617

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:31,229,489

Genome View

Select assembly:
Overlapping variant regions from other studies: 61170 SVs from 106 studies. See in: genome view    
Remapped(Score: Good):113,840,897-145,070,385Question Mark
Overlapping variant regions from other studies: 60729 SVs from 106 studies. See in: genome view    
Submitted genomic114,853,126-146,295,771Question Mark
Overlapping variant regions from other studies: 25724 SVs from 44 studies. See in: genome view    
Remapped(Score: Good):114,922,302-146,266,575Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv2774617RemappedGoodGRCh38 (hg38)Primary AssemblyFirst PassNC_000008.11Chr8113,840,897145,070,385
nsv2774617Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr8114,853,126146,295,771
nsv2774617RemappedGoodNCBI36 (hg18)Primary AssemblyFirst PassNC_000008.9Chr8114,922,302146,266,575

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinicalClinVar IDCopy numberOther Calls in this Sample and Study
nssv13653784copy number gainABC22576SNP arraySNP genotyping analysisAbnormality of the upper limb; Abnormality of the vertebral column; Behavioral abnormality; Esotropia; Flexion contracture; Global developmental delay; Sleep disturbancePathogenicSCV0005853673nssv13651359

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv13653784RemappedGoodNC_000008.11:g.(?_
113840897)_(145070
385_?)dup
GRCh38 (hg38)First PassNC_000008.11Chr8113,840,897145,070,385
nssv13653784Submitted genomicNC_000008.10:g.(?_
114853126)_(146295
771_?)dup
GRCh37 (hg19)NC_000008.10Chr8114,853,126146,295,771
nssv13653784RemappedGoodNC_000008.9:g.(?_1
14922302)_(1462665
75_?)dup
NCBI36 (hg18)First PassNC_000008.9Chr8114,922,302146,266,575

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv1365378462ABC22576FISHManual observationPass

Clinical Assertions

Variant Call IDSample IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationGenderAgeCopy numberOther Calls in this Sample and Study
nssv13653784ABC22576SCV000585367NC_000008.10:g.(?_114853126)_(146295771_?)dupcopy number gainNot testedAbnormality of the upper limb; Abnormality of the vertebral column; Behavioral abnormality; Esotropia; Flexion contracture; Global developmental delay; Sleep disturbancePathogenicFemale112 months3nssv13651359

No genotype data were submitted for this variant

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