nsv4350067

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:51,249,963
  • Description:GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) AND not provided

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 139902 SVs from 139 studies. See in: genome view    
Remapped(Score: Good):29,487,688-80,737,650Question Mark
Overlapping variant regions from other studies: 139701 SVs from 139 studies. See in: genome view    
Submitted genomic29,455,465-81,447,367Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4350067RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr629,487,68880,737,650
nsv4350067Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr629,455,46581,447,367

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15606075copy number gainMultipleMultiplenot providedPathogenicClinVarRCV000767714.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15606075RemappedGoodNC_000006.12:g.(?_
29487688)_(8073765
0_?)dup
GRCh38.p12First PassNC_000006.12Chr629,487,68880,737,650
nssv15606075Submitted genomicNC_000006.11:g.(?_
29455465)_(8144736
7_?)dup
GRCh37 (hg19)NC_000006.11Chr629,455,46581,447,367

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15606075GRCh37: NC_000006.11:g.(?_29455465)_(81447367_?)dupcopy number gaingermlinenot providedPathogenicClinVarRCV000767714.1

No genotype data were submitted for this variant

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