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nsv3889225

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:154

Genome View

Select assembly:
Overlapping variant regions from other studies: 83 SVs from 18 studies. See in: genome view    
Submitted genomic87,952,112-87,952,265Question Mark
Overlapping variant regions from other studies: 83 SVs from 18 studies. See in: genome view    
Submitted genomic89,711,869-89,712,022Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3889225Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000010.11Chr1087,952,11287,952,265
nsv3889225Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1089,711,86989,712,022

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15129416deletionMultipleMultipleHamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndromePathogenicClinVarRCV000645099.1, VCV000536574.1

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15129416Submitted genomicNC_000010.11:g.(?_
87952112)_(8795226
5_?)del
GRCh38 (hg38)NC_000010.11Chr1087,952,11287,952,265
nssv15129416Submitted genomicNC_000010.10:g.(?_
89711869)_(8971202
2_?)del
GRCh37 (hg19)NC_000010.10Chr1089,711,86989,712,022

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15129416GRCh37: NC_000010.10:g.(?_89711869)_(89712022_?)del, GRCh38: NC_000010.11:g.(?_87952112)_(87952265_?)deldeletiongermlineHamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndromePathogenicClinVarRCV000645099.1, VCV000536574.1

No genotype data were submitted for this variant

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