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nsv4685973

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:5,029,035
  • Description:NC_000022.11:g.45708330_50737364del AND Phelan-McDermid syndrome
  • Publication(s):Phelan et al. 2005

Genome View

Select assembly:
Overlapping variant regions from other studies: 21156 SVs from 118 studies. See in: genome view    
Submitted genomic45,708,330-50,737,364Question Mark
Overlapping variant regions from other studies: 21082 SVs from 118 studies. See in: genome view    
Remapped(Score: Good):46,104,210-51,175,792Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv4685973Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000022.11Chr2245,708,33050,737,364
nsv4685973RemappedGoodGRCh37.p13Primary AssemblyFirst PassNC_000022.10Chr2246,104,21051,175,792

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv16216897deletionMultipleMultiple22q13.3 deletion syndrome; Monosomy 22q13; PHELAN-MCDERMID SYNDROME; PHMDS; Phelan-McDermid SyndromePathogenicClinVarRCV001254359.4, VCV000976865.3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv16216897Submitted genomicNC_000022.11:g.457
08330_50737364del
GRCh38 (hg38)NC_000022.11Chr2245,708,33050,737,364
nssv16216897RemappedGoodNC_000022.10:g.461
04210_51175792del
GRCh37.p13First PassNC_000022.10Chr2246,104,21051,175,792

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv16216897GRCh38: NC_000022.11:g.45708330_50737364deldeletionunknown22q13.3 deletion syndrome; Monosomy 22q13; PHELAN-MCDERMID SYNDROME; PHMDS; Phelan-McDermid SyndromePathogenicClinVarRCV001254359.4, VCV000976865.3

No genotype data were submitted for this variant

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