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dbVar

Database of genomic structural variation

nsv6291549

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:73,058

Description:GRCh37/hg19 18q12.1(chr18:29734579-29807636)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: 338 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):32,154,616-32,227,673

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6291549	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	32,154,616	32,227,673
nsv6291549	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	29,734,579	29,807,636

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17956276	copy number loss	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV001834300.1, VCV001340783.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17956276	Remapped	Perfect	NC_000018.10:g.(?_ 32154616)_(3222767 3_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	32,154,616	32,227,673
nssv17956276	Submitted genomic		NC_000018.9:g.(?_2 9734579)_(29807636 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	29,734,579	29,807,636

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
nssv17956276	GRCh37: NC_000018.9:g.(?_29734579)_(29807636_?)del	copy number loss	germline	not provided	Likely benign	ClinVar	RCV001834300.1, VCV001340783.1	1

No genotype data were submitted for this variant

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