nsv996205

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:42,006,675
  • Description:FISH studies using 3q and 21q subtelomere probes (Abbott Molecular) confirmed that these abnormalities are the result of an unbalanced 3;21 translocation.
  • Publication(s):Miller et al. 2010

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 75666 SVs from 105 studies. See in: genome view    
Remapped(Score: Good):156,118,441-198,125,115Question Mark
Overlapping variant regions from other studies: 75696 SVs from 105 studies. See in: genome view    
Submitted genomic155,836,230-197,851,986Question Mark
Overlapping variant regions from other studies: 34097 SVs from 43 studies. See in: genome view    
Remapped(Score: Good):157,318,924-199,336,383Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv996205RemappedGoodGRCh38 (hg38)Primary AssemblyFirst PassNC_000003.12Chr3156,118,441198,125,115
nsv996205Submitted genomicGRCh37 (hg19)NC_000003.11Chr3155,836,230197,851,986
nsv996205RemappedGoodNCBI36 (hg18)Primary AssemblyFirst PassNC_000003.10Chr3157,318,924199,336,383

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation LevelCopy numberOther Calls in this Sample and Study
nssv3395392copy number gainABC16564SNP arraySNP genotyping analysisMicrocephalyPathogenicSCV000183635classified by single submitter3nssv3395393

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv3395392RemappedGoodNC_000003.12:g.(?_
156118441)_(198125
115_?)dup
GRCh38 (hg38)Primary AssemblyFirst PassNC_000003.12Chr3156,118,441198,125,115
nssv3395392Submitted genomicNC_000003.11:g.(?_
155836230)_(197851
986_?)dup
GRCh37 (hg19)NC_000003.11Chr3155,836,230197,851,986
nssv3395392RemappedGoodNC_000003.10:g.(?_
157318924)_(199336
383_?)dup
NCBI36 (hg18)Primary AssemblyFirst PassNC_000003.10Chr3157,318,924199,336,383

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv339539262ABC16564FISHManual observationPass

Clinical Assertions

Variant Call IDSample IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationClinVar Curation LevelGenderCopy numberOther Calls in this Sample and Study
nssv3395392ABC16564SCV000183635NC_000003.11:g.(?_155836230)_(197851986_?)dupcopy number gainNot testedMicrocephalyPathogenicclassified by single submitterMale3nssv3395393

No genotype data were submitted for this variant

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