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nsv3904283

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:6,795,286
  • Description:GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 28750 SVs from 124 studies. See in: genome view    
Remapped(Score: Good):39,882,175-46,677,460Question Mark
Overlapping variant regions from other studies: 28834 SVs from 124 studies. See in: genome view    
Submitted genomic41,254,101-48,097,372Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3904283RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000021.9Chr2139,882,17546,677,460
nsv3904283Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000021.8Chr2141,254,10148,097,372

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15149966copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000511808.2, VCV000443072.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15149966RemappedGoodNC_000021.9:g.(?_3
9882175)_(46677460
_?)del
GRCh38.p12First PassNC_000021.9Chr2139,882,17546,677,460
nssv15149966Submitted genomicNC_000021.8:g.(?_4
1254101)_(48097372
_?)del
GRCh37 (hg19)NC_000021.8Chr2141,254,10148,097,372

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15149966GRCh37: NC_000021.8:g.(?_41254101)_(48097372_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000511808.2, VCV000443072.21

No genotype data were submitted for this variant

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