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dbVar

Database of genomic structural variation

nsv4682076

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:60,166

Description:
See descriptions for individual calls in download files

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: 468 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):64,997,572-65,057,737

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682076	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	64,997,572	65,057,737
nsv4682076	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	65,707,465	65,767,630

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213532	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001031788.1, VCV000831214.1
nssv18791646	duplication	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV003105546.2, VCV002423852.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213532	Remapped	Perfect	NC_000006.12:g.(?_ 64997572)_(6505773 7_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	64,997,572	65,057,737
nssv18791646	Remapped	Perfect	NC_000006.12:g.(?_ 64997572)_(6505773 7_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	64,997,572	65,057,737
nssv16213532	Submitted genomic		NC_000006.11:g.(?_ 65707465)_(6576763 0_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	65,707,465	65,767,630
nssv18791646	Submitted genomic		NC_000006.11:g.(?_ 65707465)_(6576763 0_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	65,707,465	65,767,630

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
nssv16213532	GRCh37: NC_000006.11:g.(?_65707465)_(65767630_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001031788.1, VCV000831214.1
nssv18791646	GRCh37: NC_000006.11:g.(?_65707465)_(65767630_?)dup	duplication	germline	not provided	Likely pathogenic	ClinVar	RCV003105546.2, VCV002423852.2

No genotype data were submitted for this variant

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