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dbVar

Database of genomic structural variation

nsv4681357

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:1,008,553

Description:NC_000009.11:g.(?_135771602)_(136769889_?)dup AND Tuberous sclerosis 1
Publication(s):ACMG Board of Directors et al. 2014, Green et al. 2013, Hampel et al. 2014, 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: 4499 SVs from 115 studies. See in: genome view

Remapped(Score: Good):132,896,215-133,904,767

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681357	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	132,896,215	133,904,767
nsv4681357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	135,771,602	136,769,889

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212535	duplication	Multiple	Multiple	TUBEROUS SCLEROSIS 1; TSC1; Tuberous Sclerosis Complex; Tuberous sclerosis 1; Tuberous sclerosis complex	Uncertain significance	ClinVar	RCV001033460.1, VCV000832997.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212535	Remapped	Good	NC_000009.12:g.(?_ 132896215)_(133904 767_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	132,896,215	133,904,767
nssv16212535	Submitted genomic		NC_000009.11:g.(?_ 135771602)_(136769 889_?)dup	GRCh37 (hg19)		NC_000009.11	Chr9	135,771,602	136,769,889

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
nssv16212535	GRCh37: NC_000009.11:g.(?_135771602)_(136769889_?)dup	duplication	germline	TUBEROUS SCLEROSIS 1; TSC1; Tuberous Sclerosis Complex; Tuberous sclerosis 1; Tuberous sclerosis complex	Uncertain significance	ClinVar	RCV001033460.1, VCV000832997.1

No genotype data were submitted for this variant

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