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dbVar

Database of genomic structural variation

nsv6315302

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:20,656

Description:NC_000019.9:g.(?_1205797)_(1223172_1226452)del
AND Peutz-Jeghers syndrome
Publication(s):ACMG Board of Directors et al. 2014, Goggins et al. 2020, Green et al. 2013, Hampel et al. 2014, Kalia et al. 2016, McGarrity et al. 2001, Miller et al. 2021, Miller et al. 2022, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, Syngal et al. 2015, Trepanier et al. 2004

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: 339 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):1,205,798-1,226,453

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv6315302	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	1,205,798	1,223,173	1,226,453
nsv6315302	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	1,205,797	1,223,172	1,226,452

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976786	deletion	Multiple	Multiple	PEUTZ-JEGHERS SYNDROME; PJS; Peutz-Jeghers Syndrome; Peutz-Jeghers Syndrome; Peutz-Jeghers syndrome; Peutz-Jeghers syndrome	Likely pathogenic	ClinVar	RCV002282827.1, VCV001704500.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv17976786	Remapped	Perfect	NC_000019.10:g.(?_ 1205798)_(1223173_ 1226453)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	1,205,798	1,223,173	1,226,453
nssv17976786	Submitted genomic		NC_000019.9:g.(?_1 205797)_(1223172_1 226452)del	GRCh37 (hg19)		NC_000019.9	Chr19	1,205,797	1,223,172	1,226,452

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
nssv17976786	GRCh37: NC_000019.9:g.(?_1205797)_(1223172_1226452)del	deletion	germline	PEUTZ-JEGHERS SYNDROME; PJS; Peutz-Jeghers Syndrome; Peutz-Jeghers Syndrome; Peutz-Jeghers syndrome; Peutz-Jeghers syndrome	Likely pathogenic	ClinVar	RCV002282827.1, VCV001704500.1

No genotype data were submitted for this variant

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