nsv996053

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:31,987,907
  • Description:Metaphase FISH studies using 3p and 3q subtelomere probes (Abbott Molecular) confirmed these abnormalities and demonstrated that the duplicated 3q material resides on distal 3p, suggesting that these abnormalities may be the result of a recombination from a parental pericentric inversion.
  • Publication(s):Miller et al. 2010

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 58665 SVs from 104 studies. See in: genome view    
Remapped(Score: Good):166,137,209-198,125,115Question Mark
Overlapping variant regions from other studies: 58695 SVs from 104 studies. See in: genome view    
Submitted genomic165,854,997-197,851,986Question Mark
Overlapping variant regions from other studies: 25649 SVs from 43 studies. See in: genome view    
Remapped(Score: Good):167,337,691-199,336,383Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv996053RemappedGoodGRCh38 (hg38)Primary AssemblyFirst PassNC_000003.12Chr3166,137,209198,125,115
nsv996053Submitted genomicGRCh37 (hg19)NC_000003.11Chr3165,854,997197,851,986
nsv996053RemappedGoodNCBI36 (hg18)Primary AssemblyFirst PassNC_000003.10Chr3167,337,691199,336,383

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation LevelCopy numberOther Calls in this Sample and Study
nssv3397451copy number gainABC15917SNP arraySNP genotyping analysisAbnormal facial shapePathogenicSCV000183482classified by single submitter3nssv3397450

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv3397451RemappedGoodNC_000003.12:g.(?_
166137209)_(198125
115_?)dup
GRCh38 (hg38)Primary AssemblyFirst PassNC_000003.12Chr3166,137,209198,125,115
nssv3397451Submitted genomicNC_000003.11:g.(?_
165854997)_(197851
986_?)dup
GRCh37 (hg19)NC_000003.11Chr3165,854,997197,851,986
nssv3397451RemappedGoodNC_000003.10:g.(?_
167337691)_(199336
383_?)dup
NCBI36 (hg18)Primary AssemblyFirst PassNC_000003.10Chr3167,337,691199,336,383

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv339745162ABC15917FISHManual observationPass

Clinical Assertions

Variant Call IDSample IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationClinVar Curation LevelGenderCopy numberOther Calls in this Sample and Study
nssv3397451ABC15917SCV000183482NC_000003.11:g.(?_165854997)_(197851986_?)dupcopy number gainNot testedAbnormal facial shapePathogenicclassified by single submitterFemale3nssv3397450

No genotype data were submitted for this variant

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