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nsv5980455

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:479,522

Genome View

Select assembly:
Overlapping variant regions from other studies: 829 SVs from 68 studies. See in: genome view    
Submitted genomic153,884,414-154,363,935Question Mark
Overlapping variant regions from other studies: 825 SVs from 68 studies. See in: genome view    
Remapped(Score: Pass):153,149,868-153,592,303Question Mark
Overlapping variant regions from other studies: 402 SVs from 38 studies. See in: genome view    
Remapped(Score: Good):1,318,396-1,797,914Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nsv5980455Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000023.11ChrX153,884,414153,905,292154,361,918154,363,935
nsv5980455RemappedPassGRCh37.p13Primary AssemblySecond PassNC_000023.10ChrX153,149,868153,149,868153,592,303153,592,303
nsv5980455RemappedGoodGRCh37.p13PATCHESFirst PassNW_003871103.3ChrX|NW_00
3871103.3
1,318,3961,318,3961,797,9141,797,914

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17517435copy number gainMultipleMultipleLUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; Syndromic X-linked intellectual disability Lubs typePathogenicClinVarRCV000012611.25, VCV000011838.2

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nssv17517435Submitted genomicNC_000023.11:g.(15
3884414_153905292)
_(154361918_154363
935)dup
GRCh38 (hg38)NC_000023.11ChrX153,884,414153,905,292154,361,918154,363,935
nssv17517435RemappedGoodNW_003871103.3:g.(
1318396_1318396)_(
1797914_1797914)du
p
GRCh37.p13First PassNW_003871103.3ChrX|NW_00
3871103.3
1,318,3961,318,3961,797,9141,797,914
nssv17517435RemappedPassNC_000023.10:g.(15
3149868_153149868)
_(153592303_153592
303)dup
GRCh37.p13Second PassNC_000023.10ChrX153,149,868153,149,868153,592,303153,592,303

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17517435GRCh38: NC_000023.11:g.(153884414_153905292)_(154361918_154363935)dupcopy number gaingermlineLUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; Syndromic X-linked intellectual disability Lubs typePathogenicClinVarRCV000012611.25, VCV000011838.2

No genotype data were submitted for this variant

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