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dbVar

Database of genomic structural variation

nsv4681893

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:760,843

Description:NC_000011.9:g.(?_71146401)_(71907241_?)dup AND Cerebral folate transport deficiency
Publication(s):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: 2073 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):71,435,355-72,196,197

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681893	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	71,435,355	72,196,197
nsv4681893	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	71,146,401	71,907,241

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214739	duplication	Multiple	Multiple	Cerebral folate deficiency; NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY; Neurodegenerative syndrome due to cerebral folate transport deficiency	Uncertain significance	ClinVar	RCV001031374.4, VCV000830767.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214739	Remapped	Perfect	NC_000011.10:g.(?_ 71435355)_(7219619 7_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	71,435,355	72,196,197
nssv16214739	Submitted genomic		NC_000011.9:g.(?_7 1146401)_(71907241 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	71,146,401	71,907,241

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
nssv16214739	GRCh37: NC_000011.9:g.(?_71146401)_(71907241_?)dup	duplication	germline	Cerebral folate deficiency; NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY; Neurodegenerative syndrome due to cerebral folate transport deficiency	Uncertain significance	ClinVar	RCV001031374.4, VCV000830767.4

No genotype data were submitted for this variant

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