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nsv6638045

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:11,393,336
  • Description:GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 42872 SVs from 131 studies. See in: genome view    
Remapped(Score: Good):68,862,905-80,256,240Question Mark
Overlapping variant regions from other studies: 42752 SVs from 131 studies. See in: genome view    
Submitted genomic66,530,142-78,014,123Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6638045RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1868,862,90580,256,240
nsv6638045Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1866,530,14278,014,123

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv18330739copy number lossMultipleMultiplenot providedPathogenicClinVarRCV002472600.1, VCV001807794.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv18330739RemappedGoodNC_000018.10:g.(?_
68862905)_(8025624
0_?)del
GRCh38.p12First PassNC_000018.10Chr1868,862,90580,256,240
nssv18330739Submitted genomicNC_000018.9:g.(?_6
6530142)_(78014123
_?)del
GRCh37 (hg19)NC_000018.9Chr1866,530,14278,014,123

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv18330739GRCh37: NC_000018.9:g.(?_66530142)_(78014123_?)delcopy number lossunknownnot providedPathogenicClinVarRCV002472600.1, VCV001807794.11

No genotype data were submitted for this variant

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