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dbVar

Database of genomic structural variation

nsv4682621

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:390,989

Description:
See descriptions for individual calls in download files
Publication(s):Bird et al. 1998, Bird et al. 2004

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: 1003 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):73,976,132-74,367,120

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682621	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	73,976,132	74,367,120
nsv4682621	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	74,888,367	75,279,355

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213406	duplication	Multiple	Multiple	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2; TMEM70-related mitochondrial encephalo-cardio-myopathy	Uncertain significance	ClinVar	RCV001031609.2, VCV000831016.2
nssv17059594	duplication	Multiple	Multiple	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, type 4A; GDAP1-Related Hereditary Motor and Sensory Neuropathy	Uncertain significance	ClinVar	RCV001325417.1, VCV000831016.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213406	Remapped	Perfect	NC_000008.11:g.(?_ 73976132)_(7436712 0_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	73,976,132	74,367,120
nssv17059594	Remapped	Perfect	NC_000008.11:g.(?_ 73976132)_(7436712 0_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	73,976,132	74,367,120
nssv16213406	Submitted genomic		NC_000008.10:g.(?_ 74888367)_(7527935 5_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	74,888,367	75,279,355
nssv17059594	Submitted genomic		NC_000008.10:g.(?_ 74888367)_(7527935 5_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	74,888,367	75,279,355

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
nssv16213406	GRCh37: NC_000008.10:g.(?_74888367)_(75279355_?)dup	duplication	germline	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2; TMEM70-related mitochondrial encephalo-cardio-myopathy	Uncertain significance	ClinVar	RCV001031609.2, VCV000831016.2
nssv17059594	GRCh37: NC_000008.10:g.(?_74888367)_(75279355_?)dup	duplication	germline	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, type 4A; GDAP1-Related Hereditary Motor and Sensory Neuropathy	Uncertain significance	ClinVar	RCV001325417.1, VCV000831016.2

No genotype data were submitted for this variant

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