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dbVar

Database of genomic structural variation

nsv4683977

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:186

Description:NC_000013.11:g.(?_76995053)_(76995238_?)dup AND Neuronal ceroid lipofuscinosis
Publication(s):Jalanko et al. 2008

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: 105 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):76,995,053-76,995,238

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683977	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	76,995,053	76,995,238
nsv4683977	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	77,569,188	77,569,373

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214816	duplication	Multiple	Multiple	Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis	Likely pathogenic	ClinVar	RCV001033119.3, VCV000832645.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214816	Remapped	Perfect	NC_000013.11:g.(?_ 76995053)_(7699523 8_?)dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	76,995,053	76,995,238
nssv16214816	Submitted genomic		NC_000013.10:g.(?_ 77569188)_(7756937 3_?)dup	GRCh37 (hg19)		NC_000013.10	Chr13	77,569,188	77,569,373

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
nssv16214816	GRCh37: NC_000013.10:g.(?_77569188)_(77569373_?)dup	duplication	germline	Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis	Likely pathogenic	ClinVar	RCV001033119.3, VCV000832645.3

No genotype data were submitted for this variant

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