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nsv7093937

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:4,028

Genome View

Select assembly:
Overlapping variant regions from other studies: 77 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):66,519,607-66,523,634Question Mark
Overlapping variant regions from other studies: 77 SVs from 26 studies. See in: genome view    
Submitted genomic66,287,078-66,291,105Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv7093937RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1166,519,60766,523,634
nsv7093937Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr1166,287,07866,291,105

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18787680deletionMultipleMultipleBardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndromePathogenicClinVarRCV003122683.2, VCV002426850.2

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv18787680RemappedPerfectNC_000011.10:g.(?_
66519607)_(6652363
4_?)del
GRCh38.p12First PassNC_000011.10Chr1166,519,60766,523,634
nssv18787680Submitted genomicNC_000011.9:g.(?_6
6287078)_(66291105
_?)del
GRCh37 (hg19)NC_000011.9Chr1166,287,07866,291,105

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18787680GRCh37: NC_000011.9:g.(?_66287078)_(66291105_?)deldeletiongermlineBardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndromePathogenicClinVarRCV003122683.2, VCV002426850.2

No genotype data were submitted for this variant

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