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nsv7098869

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:15,041,447
  • Description:GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) AND Syndromic X-linked intellectual disability Lubs type
  • Publication(s):Van Esch et al. 2008

Genome View

Select assembly:
Overlapping variant regions from other studies: 23945 SVs from 105 studies. See in: genome view    
Remapped(Score: Good):140,503,850-155,545,296Question Mark
Overlapping variant regions from other studies: 23784 SVs from 105 studies. See in: genome view    
Submitted genomic139,586,015-154,774,957Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartOuter Stop
nsv7098869RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX140,503,850155,545,296
nsv7098869Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX139,586,015154,774,957

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18792759copy number gainMultipleMultipleLUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; Syndromic X-linked intellectual disability Lubs typePathogenicClinVarRCV003214133.1, VCV002497748.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartOuter Stop
nssv18792759RemappedGoodNC_000023.11:g.(14
0503850_?)_(?_1555
45296)dup
GRCh38.p12First PassNC_000023.11ChrX140,503,850155,545,296
nssv18792759Submitted genomicNC_000023.10:g.(13
9586015_?)_(?_1547
74957)dup
GRCh37 (hg19)NC_000023.10ChrX139,586,015154,774,957

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18792759GRCh37: NC_000023.10:g.(139586015_?)_(?_154774957)dupcopy number gainmaternalLUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; Syndromic X-linked intellectual disability Lubs typePathogenicClinVarRCV003214133.1, VCV002497748.1

No genotype data were submitted for this variant

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