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dbVar

Database of genomic structural variation

nsv4683939

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:793,987

Description:
See descriptions for individual calls in download files
Publication(s):ACMG Board of Directors et al. 2014, Chen et al. 2010, Else et al. 2008, Fishbein et al. 2021, Green et al. 2013, Hampel et al. 2014, Kalia et al. 2016, Lenders et al. 2014, Lu et al. 2014, Miller et al. 2021, Miller et al. 2022, No authors et al. 2021, No authors et al. 2021, Reaume et al. 2013, Robson et al. 2010, Robson et al. 2015, Rubinstein et al. 2010

Links to Other Resources

Source: NCBI

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

Genome View

Select assembly:

Overlapping variant regions from other studies: 1756 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):111,300,984-112,094,970

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683939	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	111,300,984	112,094,970
nsv4683939	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	111,171,709	111,965,694

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213755	deletion	Multiple	Multiple	Carney-Stratakis syndrome; Cowden syndrome; Cowden syndrome 3; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA; PARAGANGLIOMAS 1; PGL1; PHEOCHROMOCYTOMA; Paraganglioma and gastric stromal sarcoma; Paragangliomas 1; Pheochromocytoma; Pheochromocytoma	Pathogenic	ClinVar	RCV001032115.6, VCV000831566.2
nssv16866110	duplication	Multiple	Multiple	Carney-Stratakis syndrome; Cowden syndrome; Cowden syndrome 3; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA; PARAGANGLIOMAS 1; PGL1; PHEOCHROMOCYTOMA; Paraganglioma and gastric stromal sarcoma; Paragangliomas 1; Pheochromocytoma; Pheochromocytoma	Uncertain significance	ClinVar	RCV001300223.1, VCV001003647.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213755	Remapped	Perfect	NC_000011.10:g.(?_ 111300984)_(112094 970_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	111,300,984	112,094,970
nssv16866110	Remapped	Perfect	NC_000011.10:g.(?_ 111300984)_(112094 970_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	111,300,984	112,094,970
nssv16213755	Submitted genomic		NC_000011.9:g.(?_1 11171709)_(1119656 94_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	111,171,709	111,965,694
nssv16866110	Submitted genomic		NC_000011.9:g.(?_1 11171709)_(1119656 94_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	111,171,709	111,965,694

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
nssv16213755	GRCh37: NC_000011.9:g.(?_111171709)_(111965694_?)del	deletion	germline	Carney-Stratakis syndrome; Cowden syndrome; Cowden syndrome 3; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA; PARAGANGLIOMAS 1; PGL1; PHEOCHROMOCYTOMA; Paraganglioma and gastric stromal sarcoma; Paragangliomas 1; Pheochromocytoma; Pheochromocytoma	Pathogenic	ClinVar	RCV001032115.6, VCV000831566.2
nssv16866110	GRCh37: NC_000011.9:g.(?_111171709)_(111965694_?)dup	duplication	germline	Carney-Stratakis syndrome; Cowden syndrome; Cowden syndrome 3; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA; PARAGANGLIOMAS 1; PGL1; PHEOCHROMOCYTOMA; Paraganglioma and gastric stromal sarcoma; Paragangliomas 1; Pheochromocytoma; Pheochromocytoma	Uncertain significance	ClinVar	RCV001300223.1, VCV001003647.1

No genotype data were submitted for this variant

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