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dbVar

Database of genomic structural variation

nsv7095458

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,653,557

Description:
See descriptions for individual calls in download files
Publication(s):Bird et al. 1998, Bird et al. 1998, Gasser et al. 2009, Larson et al. 2019, Malm et al. 2001, Nilssen et al. 2011

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: 8714 SVs from 113 studies. See in: genome view

Remapped(Score: Good):10,718,243-13,371,799

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095458	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	10,718,243	13,371,799
nsv7095458	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	10,828,919	13,482,613

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787113	duplication	Multiple	Multiple	GLUTARIC ACIDEMIA I; GA1; Glutaric Acidemia Type 1; Glutaric aciduria, type 1; Glutaryl-CoA dehydrogenase deficiency	Uncertain significance	ClinVar	RCV003122092.2, VCV002422498.4
nssv18788427	duplication	Multiple	Multiple	Alpha-Mannosidosis; Alpha-mannosidosis; Deficiency of alpha-mannosidase; MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA	Uncertain significance	ClinVar	RCV003109232.2, VCV002422498.4
nssv18788428	duplication	Multiple	Multiple	Autosomal dominant Charcot-Marie-Tooth disease type 2M; CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB; Charcot-Marie-Tooth disease, dominant intermediate B	Uncertain significance	ClinVar	RCV003109233.1, VCV002422498.4
nssv18788429	duplication	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42; EPISODIC ATAXIA, TYPE 2; EA2; Epileptic encephalopathy, early infantile, 42; Episodic ataxia type 2; Familial paroxysmal ataxia	Uncertain significance	ClinVar	RCV003109234.2, VCV002422498.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787113	Remapped	Good	NC_000019.10:g.(?_ 10718243)_(1337179 9_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	10,718,243	13,371,799
nssv18788427	Remapped	Good	NC_000019.10:g.(?_ 10718243)_(1337179 9_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	10,718,243	13,371,799
nssv18788428	Remapped	Good	NC_000019.10:g.(?_ 10718243)_(1337179 9_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	10,718,243	13,371,799
nssv18788429	Remapped	Good	NC_000019.10:g.(?_ 10718243)_(1337179 9_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	10,718,243	13,371,799
nssv18787113	Submitted genomic		NC_000019.9:g.(?_1 0828919)_(13482613 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	10,828,919	13,482,613
nssv18788427	Submitted genomic		NC_000019.9:g.(?_1 0828919)_(13482613 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	10,828,919	13,482,613
nssv18788428	Submitted genomic		NC_000019.9:g.(?_1 0828919)_(13482613 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	10,828,919	13,482,613
nssv18788429	Submitted genomic		NC_000019.9:g.(?_1 0828919)_(13482613 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	10,828,919	13,482,613

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
nssv18787113	GRCh37: NC_000019.9:g.(?_10828919)_(13482613_?)dup	duplication	germline	GLUTARIC ACIDEMIA I; GA1; Glutaric Acidemia Type 1; Glutaric aciduria, type 1; Glutaryl-CoA dehydrogenase deficiency	Uncertain significance	ClinVar	RCV003122092.2, VCV002422498.4
nssv18788427	GRCh37: NC_000019.9:g.(?_10828919)_(13482613_?)dup	duplication	germline	Alpha-Mannosidosis; Alpha-mannosidosis; Deficiency of alpha-mannosidase; MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA	Uncertain significance	ClinVar	RCV003109232.2, VCV002422498.4
nssv18788428	GRCh37: NC_000019.9:g.(?_10828919)_(13482613_?)dup	duplication	germline	Autosomal dominant Charcot-Marie-Tooth disease type 2M; CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB; Charcot-Marie-Tooth disease, dominant intermediate B	Uncertain significance	ClinVar	RCV003109233.1, VCV002422498.4
nssv18788429	GRCh37: NC_000019.9:g.(?_10828919)_(13482613_?)dup	duplication	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42; EPISODIC ATAXIA, TYPE 2; EA2; Epileptic encephalopathy, early infantile, 42; Episodic ataxia type 2; Familial paroxysmal ataxia	Uncertain significance	ClinVar	RCV003109234.2, VCV002422498.4

No genotype data were submitted for this variant

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