nsv513796

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:4,856
  • Data Source:Published variants curated by OMIM and reviewed by NCBI staff
  • Description:Alias(es): 2.4-KB DEL. The deletion breakpoints on NC_000023.10 were determined by interpretation of PubMed 15488219. This deletion is 2.4 kb in size and encompasses parts of exon 3, intron 3 and exon 4, and part of intron 4.
  • Publication(s):Friesema et al. 2004

Genome View

Select assembly:
Overlapping variant regions from other studies: 208 SVs from 12 studies. See in: genome view    
Remapped(Score: Perfect):74,524,358-74,529,213Question Mark
Overlapping variant regions from other studies: 208 SVs from 12 studies. See in: genome view    
Submitted genomic73,744,193-73,749,048Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nsv513796RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000023.11ChrX74,524,35874,524,35974,529,21274,529,213
nsv513796Submitted genomicGRCh37 (hg19)NC_000023.10ChrX73,744,19373,744,19473,749,04773,749,048

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation Level
nssv1415024deletionCuratedCuratedALLAN-HERNDON-DUDLEY SYNDROME; AHDS; Allan-Herndon-Dudley syndrome PathogenicSCV000032637classified by single submitter

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nssv1415024RemappedPerfectNC_000023.11:g.(74
524358_74524359)_(
74529212_74529213)
del
GRCh38 (hg38)Primary AssemblyFirst PassNC_000023.11ChrX74,524,35874,524,35974,529,21274,529,213
nssv1415024Submitted genomicNC_000023.10:g.(73
744193_73744194)_(
73749047_73749048)
del
GRCh37 (hg19)NC_000023.10ChrX73,744,19373,744,19473,749,04773,749,048

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDClinVar IDHGVSTypeSubject PhenotypeClinical InterpretationClinVar Curation Level
nssv1415024SCV000032637NC_000023.10:g.(73744193_73744194)_(73749047_73749048)deldeletionALLAN-HERNDON-DUDLEY SYNDROME; AHDS; Allan-Herndon-Dudley syndrome Pathogenicclassified by single submitter

No genotype data were submitted for this variant

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