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dbVar

Database of genomic structural variation

nsv3879505

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:675,547

Description:GRCh37/hg19 4q22.1(chr4:91797748-92473294)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: 2469 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):90,876,597-91,552,143

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3879505	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	90,876,597	91,552,143
nsv3879505	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	91,797,748	92,473,294

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15141885	copy number loss	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000447338.3, VCV000394326.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15141885	Remapped	Perfect	NC_000004.12:g.(?_ 90876597)_(9155214 3_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	90,876,597	91,552,143
nssv15141885	Submitted genomic		NC_000004.11:g.(?_ 91797748)_(9247329 4_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	91,797,748	92,473,294

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
nssv15141885	GRCh37: NC_000004.11:g.(?_91797748)_(92473294_?)del	copy number loss	not provided	See cases	Likely benign	ClinVar	RCV000447338.3, VCV000394326.3	1

No genotype data were submitted for this variant

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