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dbVar

Database of genomic structural variation

nsv4682253

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:540,950

Description:NC_000016.10:g.(?_1523498)_(2064447_?)del AND Tuberous sclerosis 2
Publication(s):ACMG Board of Directors et al. 2014, Green et al. 2013, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Northrup et al. 1999, Schaefer et al. 2013

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: 2300 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):1,523,498-2,064,447

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682253	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	1,523,498	2,064,447
nsv4682253	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	1,573,499	2,114,448

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213927	deletion	Multiple	Multiple	TUBEROUS SCLEROSIS 2; TSC2; Tuberous Sclerosis Complex; Tuberous sclerosis 2; Tuberous sclerosis complex	Pathogenic	ClinVar	RCV001032344.1, VCV000831814.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213927	Remapped	Perfect	NC_000016.10:g.(?_ 1523498)_(2064447_ ?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	1,523,498	2,064,447
nssv16213927	Submitted genomic		NC_000016.9:g.(?_1 573499)_(2114448_? )del	GRCh37 (hg19)		NC_000016.9	Chr16	1,573,499	2,114,448

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
nssv16213927	GRCh37: NC_000016.9:g.(?_1573499)_(2114448_?)del	deletion	germline	TUBEROUS SCLEROSIS 2; TSC2; Tuberous Sclerosis Complex; Tuberous sclerosis 2; Tuberous sclerosis complex	Pathogenic	ClinVar	RCV001032344.1, VCV000831814.1

No genotype data were submitted for this variant

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