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dbVar

Database of genomic structural variation

nsv6311125

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:58,062

Description:
See descriptions for individual calls in download files
Publication(s):ACMG Board of Directors et al. 2014, Evans et al. 1998, Green et al. 2013, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Radtke et al. 2020

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: 221 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):29,636,741-29,694,802

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311125	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	29,636,741	29,694,802
nsv6311125	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	30,032,730	30,090,791

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974562	duplication	Multiple	Multiple	NEUROFIBROMATOSIS, TYPE II; NF2; Neurofibromatosis 2; Neurofibromatosis type 2; Neurofibromatosis, type 2	Uncertain significance	ClinVar	RCV001908067.3, VCV001372639.7
nssv17975136	deletion	Multiple	Multiple	NEUROFIBROMATOSIS, TYPE II; NF2; Neurofibromatosis 2; Neurofibromatosis type 2; Neurofibromatosis, type 2	Pathogenic	ClinVar	RCV001939590.5, VCV001454813.8

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974562	Remapped	Perfect	NC_000022.11:g.(?_ 29636741)_(2969480 2_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	29,636,741	29,694,802
nssv17975136	Remapped	Perfect	NC_000022.11:g.(?_ 29636741)_(2969480 2_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	29,636,741	29,694,802
nssv17974562	Submitted genomic		NC_000022.10:g.(?_ 30032730)_(3009079 1_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	30,032,730	30,090,791
nssv17975136	Submitted genomic		NC_000022.10:g.(?_ 30032730)_(3009079 1_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	30,032,730	30,090,791

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
nssv17974562	GRCh37: NC_000022.10:g.(?_30032730)_(30090791_?)dup	duplication	germline	NEUROFIBROMATOSIS, TYPE II; NF2; Neurofibromatosis 2; Neurofibromatosis type 2; Neurofibromatosis, type 2	Uncertain significance	ClinVar	RCV001908067.3, VCV001372639.7
nssv17975136	GRCh37: NC_000022.10:g.(?_30032730)_(30090791_?)del	deletion	germline	NEUROFIBROMATOSIS, TYPE II; NF2; Neurofibromatosis 2; Neurofibromatosis type 2; Neurofibromatosis, type 2	Pathogenic	ClinVar	RCV001939590.5, VCV001454813.8

No genotype data were submitted for this variant

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