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dbVar

Database of genomic structural variation

nsv4683790

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:5,498

Description:NC_000016.10:g.(?_57655389)_(57660886_?)dup AND not provided

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

Remapped(Score: Perfect):57,655,389-57,660,886

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683790	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	57,655,389	57,660,886
nsv4683790	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	57,689,301	57,694,798

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213745	duplication	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV001032095.3, VCV000831545.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213745	Remapped	Perfect	NC_000016.10:g.(?_ 57655389)_(5766088 6_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	57,655,389	57,660,886
nssv16213745	Submitted genomic		NC_000016.9:g.(?_5 7689301)_(57694798 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	57,689,301	57,694,798

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
nssv16213745	GRCh37: NC_000016.9:g.(?_57689301)_(57694798_?)dup	duplication	germline	not provided	Likely pathogenic	ClinVar	RCV001032095.3, VCV000831545.3

No genotype data were submitted for this variant

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