nsv513807

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:2,379
  • Data Source:Published variants curated by OMIM and reviewed by NCBI staff
  • Description:Alias(es): 2.4-KB DEL. The deletion as reported in PubMed 1361491 has breakpoints in intron 39 of MYH7 and the intergenic region between MYH7 and MYH6. The deletion has a total size of 2.4 kb.
  • Publication(s):Marian et al. 1992

Genome View

Select assembly:
Overlapping variant regions from other studies: 68 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):23,410,905-23,413,283Question Mark
Overlapping variant regions from other studies: 68 SVs from 20 studies. See in: genome view    
Submitted genomic23,880,114-23,882,492Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv513807RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000014.9Chr1423,410,90523,413,283
nsv513807Submitted genomicGRCh37 (hg19)NC_000014.8Chr1423,880,11423,882,492

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation Level
nssv1415035deletionCuratedCuratedCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1; Familial hypertrophic cardiomyopathy 1 PathogenicSCV000035409classified by single submitter

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nssv1415035RemappedPerfectNC_000014.9:g.2341
0905_23413283del
GRCh38 (hg38)Primary AssemblyFirst PassNC_000014.9Chr1423,410,90523,413,283
nssv1415035Submitted genomicNC_000014.8:g.2388
0114_23882492del
GRCh37 (hg19)NC_000014.8Chr1423,880,11423,882,492

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDClinVar IDHGVSTypeSubject PhenotypeClinical InterpretationClinVar Curation Level
nssv1415035SCV000035409NC_000014.8:g.23880114_23882492deldeletionCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1; Familial hypertrophic cardiomyopathy 1 Pathogenicclassified by single submitter

No genotype data were submitted for this variant

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