nsv7096173

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:57,161
  • Description:NC_000002.11:g.(?_50723023)_(50780183_?)del AND Pitt-Hopkins-like syndrome 2

Genome View

Select assembly:
Overlapping variant regions from other studies: 295 SVs from 41 studies. See in: genome view    
Remapped(Score: Perfect):50,495,885-50,553,045Question Mark
Overlapping variant regions from other studies: 295 SVs from 41 studies. See in: genome view    
Submitted genomic50,723,023-50,780,183Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv7096173RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr250,495,88550,553,045
nsv7096173Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr250,723,02350,780,183

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18791601deletionMultipleMultiplePITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2PathogenicClinVarRCV003105499.2, VCV002423805.2

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv18791601RemappedPerfectNC_000002.12:g.(?_
50495885)_(5055304
5_?)del
GRCh38.p12First PassNC_000002.12Chr250,495,88550,553,045
nssv18791601Submitted genomicNC_000002.11:g.(?_
50723023)_(5078018
3_?)del
GRCh37 (hg19)NC_000002.11Chr250,723,02350,780,183

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18791601GRCh37: NC_000002.11:g.(?_50723023)_(50780183_?)deldeletiongermlinePITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2PathogenicClinVarRCV003105499.2, VCV002423805.2

No genotype data were submitted for this variant

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