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dbVar

Database of genomic structural variation

nsv3891019

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:105,707

Description:GRCh37/hg19 20q11.21(chr20:30947071-31052777)x1 AND See cases

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: 328 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):32,359,268-32,464,974

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3891019	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	32,359,268	32,464,974
nsv3891019	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	30,947,071	31,052,777

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15140237	copy number loss	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV000449244.3, VCV000394545.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15140237	Remapped	Perfect	NC_000020.11:g.(?_ 32359268)_(3246497 4_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	32,359,268	32,464,974
nssv15140237	Submitted genomic		NC_000020.10:g.(?_ 30947071)_(3105277 7_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	30,947,071	31,052,777

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	Copy number
nssv15140237	GRCh37: NC_000020.10:g.(?_30947071)_(31052777_?)del	copy number loss	not provided	See cases	Likely pathogenic	ClinVar	RCV000449244.3, VCV000394545.3	1

No genotype data were submitted for this variant

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