nsv4352493

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:3,679,259
  • Description:GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 9731 SVs from 109 studies. See in: genome view    
Remapped(Score: Perfect):55,319,519-58,998,777Question Mark
Overlapping variant regions from other studies: 9737 SVs from 109 studies. See in: genome view    
Remapped(Score: Perfect):55,086,995-58,766,250Question Mark
Overlapping variant regions from other studies: 3767 SVs from 42 studies. See in: genome view    
Submitted genomic54,843,571-58,522,826Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4352493RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1155,319,51958,998,777
nsv4352493RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000011.9Chr1155,086,99558,766,250
nsv4352493Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000011.8Chr1154,843,57158,522,826

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15137877copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000142757.33

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15137877RemappedPerfectNC_000011.10:g.(?_
55319519)_(5899877
7_?)dup
GRCh38.p12First PassNC_000011.10Chr1155,319,51958,998,777
nssv15137877RemappedPerfectNC_000011.9:g.(?_5
5086995)_(58766250
_?)dup
GRCh37.p13First PassNC_000011.9Chr1155,086,99558,766,250
nssv15137877Submitted genomicNC_000011.8:g.(?_5
4843571)_(58522826
_?)dup
NCBI36 (hg18)NC_000011.8Chr1154,843,57158,522,826

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15137877NC_000011.8:g.(?_54843571)_(58522826_?)dupcopy number gainnot providedSee casesPathogenicClinVarRCV000142757.33

No genotype data were submitted for this variant

Support Center