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dbVar

Database of genomic structural variation

nsv4676270

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:2,208,205

Description:
GRCh37/hg19 20p13(chr20:61568-2269777)x1 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: 8252 SVs from 122 studies. See in: genome view

Remapped(Score: Perfect):80,927-2,289,131

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4676270	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	80,927	2,289,131
nsv4676270	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	61,568	2,269,777

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16208999	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001007065.1, VCV000816099.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16208999	Remapped	Perfect	NC_000020.11:g.(?_ 80927)_(2289131_?) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	80,927	2,289,131
nssv16208999	Submitted genomic		NC_000020.10:g.(?_ 61568)_(2269777_?) del	GRCh37 (hg19)		NC_000020.10	Chr20	61,568	2,269,777

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
nssv16208999	GRCh37: NC_000020.10:g.(?_61568)_(2269777_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001007065.1, VCV000816099.1	1

No genotype data were submitted for this variant

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