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dbVar

Database of genomic structural variation

nsv3884414

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:248,016,399

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: 585968 SVs from 159 studies. See in: genome view

Remapped(Score: Good):914,087-248,930,485

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3884414	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	914,087	248,930,485
nsv3884414	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	849,467	249,224,684

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15149867	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510383.2, VCV000442386.2	3
nssv15151118	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510926.2, VCV000442387.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15149867	Remapped	Good	NC_000001.11:g.(?_ 914087)_(248930485 _?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	914,087	248,930,485
nssv15151118	Remapped	Good	NC_000001.11:g.(?_ 914087)_(248930485 _?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	914,087	248,930,485
nssv15149867	Submitted genomic		NC_000001.10:g.(?_ 849467)_(249224684 _?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	849,467	249,224,684
nssv15151118	Submitted genomic		NC_000001.10:g.(?_ 849467)_(249224684 _?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	849,467	249,224,684

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
nssv15149867	GRCh37: NC_000001.10:g.(?_849467)_(249224684_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000510383.2, VCV000442386.2	3
nssv15151118	GRCh37: NC_000001.10:g.(?_849467)_(249224684_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000510926.2, VCV000442387.2

No genotype data were submitted for this variant

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