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nsv6311469

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:16,271
  • Description:NC_000002.11:g.(?_175612852)_(175629122_?)del AND Lethal multiple pterygium syndrome

Genome View

Select assembly:
Overlapping variant regions from other studies: 170 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):174,748,124-174,764,394Question Mark
Overlapping variant regions from other studies: 170 SVs from 26 studies. See in: genome view    
Submitted genomic175,612,852-175,629,122Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6311469RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2174,748,124174,764,394
nsv6311469Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2175,612,852175,629,122

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17971895deletionMultipleMultipleLethal multiple pterygium syndrome; Lethal multiple pterygium syndrome; MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPSPathogenicClinVarRCV001960680.2, VCV001454489.2

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17971895RemappedPerfectNC_000002.12:g.(?_
174748124)_(174764
394_?)del
GRCh38.p12First PassNC_000002.12Chr2174,748,124174,764,394
nssv17971895Submitted genomicNC_000002.11:g.(?_
175612852)_(175629
122_?)del
GRCh37 (hg19)NC_000002.11Chr2175,612,852175,629,122

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17971895GRCh37: NC_000002.11:g.(?_175612852)_(175629122_?)deldeletiongermlineLethal multiple pterygium syndrome; Lethal multiple pterygium syndrome; MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPSPathogenicClinVarRCV001960680.2, VCV001454489.2

No genotype data were submitted for this variant

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