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dbVar

Database of genomic structural variation

nsv6310743

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:32,207

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: 114 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):19,219,303-19,251,509

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310743	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	19,219,303	19,251,509
nsv6310743	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	19,545,797	19,578,003

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971515	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001956184.3, VCV001458063.3
nssv18786639	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003119483.2, VCV002426045.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971515	Remapped	Perfect	NC_000001.11:g.(?_ 19219303)_(1925150 9_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	19,219,303	19,251,509
nssv18786639	Remapped	Perfect	NC_000001.11:g.(?_ 19219303)_(1925150 9_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	19,219,303	19,251,509
nssv17971515	Submitted genomic		NC_000001.10:g.(?_ 19545797)_(1957800 3_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	19,545,797	19,578,003
nssv18786639	Submitted genomic		NC_000001.10:g.(?_ 19545797)_(1957800 3_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	19,545,797	19,578,003

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
nssv17971515	GRCh37: NC_000001.10:g.(?_19545797)_(19578003_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001956184.3, VCV001458063.3
nssv18786639	GRCh37: NC_000001.10:g.(?_19545797)_(19578003_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003119483.2, VCV002426045.2

No genotype data were submitted for this variant

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