nsv3922666

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:8,641,185
  • Description:GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 22900 SVs from 123 studies. See in: genome view    
Submitted genomic75,453,111-84,094,295Question Mark
Overlapping variant regions from other studies: 22898 SVs from 123 studies. See in: genome view    
Submitted genomic76,378,321-85,015,448Question Mark
Overlapping variant regions from other studies: 5839 SVs from 34 studies. See in: genome view    
Submitted genomic76,597,345-85,234,472Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3922666Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000004.12Chr475,453,11184,094,295
nsv3922666Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000004.11Chr476,378,32185,015,448
nsv3922666Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000004.10Chr476,597,34585,234,472

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15146323copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000050786.5, VCV000057143.11

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15146323Submitted genomicNC_000004.12:g.(?_
75453111)_(8409429
5_?)del
GRCh38 (hg38)NC_000004.12Chr475,453,11184,094,295
nssv15146323Submitted genomicNC_000004.11:g.(?_
76378321)_(8501544
8_?)del
GRCh37 (hg19)NC_000004.11Chr476,378,32185,015,448
nssv15146323Submitted genomicNC_000004.10:g.(?_
76597345)_(8523447
2_?)del
NCBI36 (hg18)NC_000004.10Chr476,597,34585,234,472

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15146323GRCh37: NC_000004.11:g.(?_76378321)_(85015448_?)del, GRCh38: NC_000004.12:g.(?_75453111)_(84094295_?)del, NCBI36: NC_000004.10:g.(?_76597345)_(85234472_?)delcopy number lossde novoSee casesPathogenicClinVarRCV000050786.5, VCV000057143.11

No genotype data were submitted for this variant

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