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dbVar

Database of genomic structural variation

nsv4683305

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:26,018

Description:
See descriptions for individual calls in download files
Publication(s):ACMG Board of Directors et al. 2014, Chen et al. 2010, Duffy et al. 2013, 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, Wong et al. 2012

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: 166 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):17,018,881-17,044,898

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683305	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	17,018,881	17,044,898
nsv4683305	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	17,345,376	17,371,393

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213713	deletion	Multiple	Multiple	GASTROINTESTINAL STROMAL TUMOR; GIST; Gastrointestinal Stromal Tumors; Gastrointestinal stroma tumor; Gastrointestinal stroma tumor; Gastrointestinal stromal tumor; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMAS 4; PGL4; PHEOCHROMOCYTOMA; Paragangliomas 4; Pheochromocytoma; Pheochromocytoma	Pathogenic	ClinVar	RCV001032051.3, VCV000831498.2
nssv16865968	duplication	Multiple	Multiple	GASTROINTESTINAL STROMAL TUMOR; GIST; Gastrointestinal Stromal Tumors; Gastrointestinal stroma tumor; Gastrointestinal stroma tumor; Gastrointestinal stromal tumor; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMAS 4; PGL4; PHEOCHROMOCYTOMA; Paragangliomas 4; Pheochromocytoma; Pheochromocytoma	Uncertain significance	ClinVar	RCV001295590.5, VCV000999577.10

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213713	Remapped	Perfect	NC_000001.11:g.(?_ 17018881)_(1704489 8_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	17,018,881	17,044,898
nssv16865968	Remapped	Perfect	NC_000001.11:g.(?_ 17018881)_(1704489 8_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	17,018,881	17,044,898
nssv16213713	Submitted genomic		NC_000001.10:g.(?_ 17345376)_(1737139 3_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,345,376	17,371,393
nssv16865968	Submitted genomic		NC_000001.10:g.(?_ 17345376)_(1737139 3_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,345,376	17,371,393

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
nssv16213713	GRCh37: NC_000001.10:g.(?_17345376)_(17371393_?)del	deletion	germline	GASTROINTESTINAL STROMAL TUMOR; GIST; Gastrointestinal Stromal Tumors; Gastrointestinal stroma tumor; Gastrointestinal stroma tumor; Gastrointestinal stromal tumor; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMAS 4; PGL4; PHEOCHROMOCYTOMA; Paragangliomas 4; Pheochromocytoma; Pheochromocytoma	Pathogenic	ClinVar	RCV001032051.3, VCV000831498.2
nssv16865968	GRCh37: NC_000001.10:g.(?_17345376)_(17371393_?)dup	duplication	germline	GASTROINTESTINAL STROMAL TUMOR; GIST; Gastrointestinal Stromal Tumors; Gastrointestinal stroma tumor; Gastrointestinal stroma tumor; Gastrointestinal stromal tumor; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMAS 4; PGL4; PHEOCHROMOCYTOMA; Paragangliomas 4; Pheochromocytoma; Pheochromocytoma	Uncertain significance	ClinVar	RCV001295590.5, VCV000999577.10

No genotype data were submitted for this variant

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