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dbVar

Database of genomic structural variation

nsv3885718

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:237

Description:NC_000010.11:g.(?_87960888)_(87961124_?)del AND PTEN hamartoma tumor syndrome
Publication(s):ACMG Board of Directors et al. 2014, Daly et al. 2014, Eng et al. 2001, Green et al. 2013, Kalia et al. 2016, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, No authors et al. 2021, Saslow et al. 2007, Schaefer et al. 2013, Syngal et al. 2015

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 84 SVs from 19 studies. See in: genome view

Submitted genomic87,960,888-87,961,124

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3885718	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	87,960,888	87,961,124
nsv3885718	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	89,720,645	89,720,881

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15130067	deletion	Multiple	Multiple	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV000558868.1, VCV000468665.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15130067	Submitted genomic		NC_000010.11:g.(?_ 87960888)_(8796112 4_?)del	GRCh38 (hg38)		NC_000010.11	Chr10	87,960,888	87,961,124
nssv15130067	Remapped	Perfect	NC_000010.10:g.(?_ 89720645)_(8972088 1_?)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	89,720,645	89,720,881

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15130067	GRCh38: NC_000010.11:g.(?_87960888)_(87961124_?)del	deletion	germline	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV000558868.1, VCV000468665.1

No genotype data were submitted for this variant

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