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dbVar

Database of genomic structural variation

nsv7093895

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,296,781

Description:NC_000010.10:g.(?_88428449)_(89725229_?)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: 3779 SVs from 106 studies. See in: genome view

Remapped(Score: Perfect):86,668,692-87,965,472

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093895	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	86,668,692	87,965,472
nsv7093895	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	88,428,449	89,725,229

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788980	deletion	Multiple	Multiple	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV003110999.2, VCV002422865.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788980	Remapped	Perfect	NC_000010.11:g.(?_ 86668692)_(8796547 2_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,668,692	87,965,472
nssv18788980	Submitted genomic		NC_000010.10:g.(?_ 88428449)_(8972522 9_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	88,428,449	89,725,229

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
nssv18788980	GRCh37: NC_000010.10:g.(?_88428449)_(89725229_?)del	deletion	germline	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV003110999.2, VCV002422865.3

No genotype data were submitted for this variant

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