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nsv869553

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:111,114

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 537 SVs from 59 studies. See in: genome view    
Remapped(Score: Perfect):150,971,137-151,082,250Question Mark
Overlapping variant regions from other studies: 537 SVs from 59 studies. See in: genome view    
Remapped(Score: Perfect):151,892,289-152,003,402Question Mark
Overlapping variant regions from other studies: 151 SVs from 20 studies. See in: genome view    
Submitted genomic152,111,739-152,222,852Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv869553RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000004.12Chr4150,971,137151,082,250
nsv869553RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000004.11Chr4151,892,289152,003,402
nsv869553Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000004.10Chr4152,111,739152,222,852

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinical InterpretationSource of Interpretation
nssv1495772deletion1SequencingSequence alignmentCommon Variable ImmunodeficiencyPathogenicSubmitter

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv1495772RemappedPerfectNC_000004.12:g.150
971137_151082250de
l
GRCh38.p12First PassNC_000004.12Chr4150,971,137151,082,250
nssv1495772RemappedPerfectNC_000004.11:g.151
892289_152003402de
l
GRCh37.p13First PassNC_000004.11Chr4151,892,289152,003,402
nssv1495772Submitted genomicNC_000004.10:g.152
111739_152222852de
l
NCBI36 (hg18)NC_000004.10Chr4152,111,739152,222,852

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeSubject PhenotypeClinical InterpretationSource of Interpretation
nssv14957721NCBI36: NC_000004.10:g.152111739_152222852deldeletionCommon Variable ImmunodeficiencyPathogenicSubmitter

No genotype data were submitted for this variant

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