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dbVar

Database of genomic structural variation

nsv6309019

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:2,026,299

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: 5627 SVs from 107 studies. See in: genome view

Remapped(Score: Perfect):101,452,955-103,479,253

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309019	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	101,452,955	103,479,253
nsv6309019	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	101,323,686	103,349,981

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968791	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001942287.2, VCV001455268.2
nssv17968792	deletion	Multiple	Multiple	Jeune thoracic dystrophy; Short-rib thoracic dysplasia	Pathogenic	ClinVar	RCV001942288.2, VCV001455268.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17968791	Remapped	Perfect	NC_000011.10:g.(?_ 101452955)_(103479 253_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	101,452,955	103,479,253
nssv17968792	Remapped	Perfect	NC_000011.10:g.(?_ 101452955)_(103479 253_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	101,452,955	103,479,253
nssv17968791	Submitted genomic		NC_000011.9:g.(?_1 01323686)_(1033499 81_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	101,323,686	103,349,981
nssv17968792	Submitted genomic		NC_000011.9:g.(?_1 01323686)_(1033499 81_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	101,323,686	103,349,981

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
nssv17968791	GRCh37: NC_000011.9:g.(?_101323686)_(103349981_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001942287.2, VCV001455268.2
nssv17968792	GRCh37: NC_000011.9:g.(?_101323686)_(103349981_?)del	deletion	germline	Jeune thoracic dystrophy; Short-rib thoracic dysplasia	Pathogenic	ClinVar	RCV001942288.2, VCV001455268.2

No genotype data were submitted for this variant

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