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nsv4768385

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1,574,124
  • Description:NCBI36/hg18 21q22.13-22.2(chr21:37662974-39236719)x1 AND Complex neurodevelopmental disorder

Genome View

Select assembly:
Overlapping variant regions from other studies: 4243 SVs from 96 studies. See in: genome view    
Remapped(Score: Good):37,368,802-38,942,925Question Mark
Overlapping variant regions from other studies: 4230 SVs from 96 studies. See in: genome view    
Remapped(Score: Perfect):38,741,104-40,314,849Question Mark
Overlapping variant regions from other studies: 1292 SVs from 23 studies. See in: genome view    
Submitted genomic37,662,974-39,236,719Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4768385RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000021.9Chr2137,368,80238,942,925
nsv4768385RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000021.8Chr2138,741,10440,314,849
nsv4768385Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000021.7Chr2137,662,97439,236,719

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16296972copy number lossMultipleMultipleComplex neurodevelopmental disorder; complex neurodevelopmental disorderPathogenicClinVarRCV001264791.1, VCV000984687.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16296972RemappedGoodNC_000021.9:g.(?_3
7368802)_(38942925
_?)del
GRCh38.p12First PassNC_000021.9Chr2137,368,80238,942,925
nssv16296972RemappedPerfectNC_000021.8:g.(?_3
8741104)_(40314849
_?)del
GRCh37.p13First PassNC_000021.8Chr2138,741,10440,314,849
nssv16296972Submitted genomicNC_000021.7:g.(?_3
7662974)_(39236719
_?)del
NCBI36 (hg18)NC_000021.7Chr2137,662,97439,236,719

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16296972NCBI36: NC_000021.7:g.(?_37662974)_(39236719_?)delcopy number lossinheritedComplex neurodevelopmental disorder; complex neurodevelopmental disorderPathogenicClinVarRCV001264791.1, VCV000984687.11

No genotype data were submitted for this variant

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