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dbVar

Database of genomic structural variation

nsv7096389

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:99

Description:NC_000002.11:g.(?_189839216)_(189839314_?)del AND Ehlers-Danlos syndrome, type 4
Publication(s):ACMG Board of Directors et al. 2014, Boodhwani et al. 2014, Byers et al. 1999, Erbel et al. 2014, Green et al. 2013, Kalia et al. 2016, Meschia et al. 2014, Miller et al. 2021, Miller et al. 2022, Zentner et al. 2017

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: 97 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):188,974,490-188,974,588

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096389	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	188,974,490	188,974,588
nsv7096389	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	189,839,216	189,839,314

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786621	deletion	Multiple	Multiple	EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC; Ehlers-Danlos syndrome, type 4; Vascular Ehlers-Danlos Syndrome; Vascular Ehlers-Danlos syndrome	Pathogenic	ClinVar	RCV003119287.2, VCV002422337.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786621	Remapped	Perfect	NC_000002.12:g.(?_ 188974490)_(188974 588_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	188,974,490	188,974,588
nssv18786621	Submitted genomic		NC_000002.11:g.(?_ 189839216)_(189839 314_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	189,839,216	189,839,314

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
nssv18786621	GRCh37: NC_000002.11:g.(?_189839216)_(189839314_?)del	deletion	germline	EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC; Ehlers-Danlos syndrome, type 4; Vascular Ehlers-Danlos Syndrome; Vascular Ehlers-Danlos syndrome	Pathogenic	ClinVar	RCV003119287.2, VCV002422337.4

No genotype data were submitted for this variant

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