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dbVar

Database of genomic structural variation

nsv4685729

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:171

Description:GRCh37/hg19 9q22.32(chr9:97401423-97401593) AND Fructose-biphosphatase deficiency
Publication(s):Bijarnia-Mahay et al. 2019, Yuan 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: 68 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):94,639,141-94,639,311

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4685729	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	94,639,141	94,639,311
nsv4685729	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	97,401,423	97,401,593

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16216520	copy number loss	Multiple	Multiple	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D; Fructose-1,6-Bisphosphatase Deficiency; Fructose-1,6-bisphosphatase deficiency; Fructose-biphosphatase deficiency	Pathogenic	ClinVar	RCV001195144.1, VCV000915990.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16216520	Remapped	Perfect	NC_000009.12:g.(?_ 94639141)_(9463931 1_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	94,639,141	94,639,311
nssv16216520	Submitted genomic		NC_000009.11:g.(?_ 97401423)_(9740159 3_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	97,401,423	97,401,593

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
nssv16216520	GRCh37: NC_000009.11:g.(?_97401423)_(97401593_?)del	copy number loss	unknown	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D; Fructose-1,6-Bisphosphatase Deficiency; Fructose-1,6-bisphosphatase deficiency; Fructose-biphosphatase deficiency	Pathogenic	ClinVar	RCV001195144.1, VCV000915990.1

No genotype data were submitted for this variant

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