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dbVar

Database of genomic structural variation

nsv5380721

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:10,357

Description:
See descriptions for individual calls in download files
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: 132 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):1,753,503-1,763,859

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380721	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	1,753,503	1,763,859
nsv5380721	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	1,774,733	1,785,089

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866395	duplication	Multiple	Multiple	Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis	Uncertain significance	ClinVar	RCV001308450.1, VCV001010767.1
nssv18792055	deletion	Multiple	Multiple	Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis	Pathogenic	ClinVar	RCV003107548.2, VCV002424315.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866395	Remapped	Perfect	NC_000011.10:g.(?_ 1753503)_(1763859_ ?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	1,753,503	1,763,859
nssv18792055	Remapped	Perfect	NC_000011.10:g.(?_ 1753503)_(1763859_ ?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	1,753,503	1,763,859
nssv16866395	Submitted genomic		NC_000011.9:g.(?_1 774733)_(1785089_? )dup	GRCh37 (hg19)		NC_000011.9	Chr11	1,774,733	1,785,089
nssv18792055	Submitted genomic		NC_000011.9:g.(?_1 774733)_(1785089_? )del	GRCh37 (hg19)		NC_000011.9	Chr11	1,774,733	1,785,089

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
nssv16866395	GRCh37: NC_000011.9:g.(?_1774733)_(1785089_?)dup	duplication	germline	Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis	Uncertain significance	ClinVar	RCV001308450.1, VCV001010767.1
nssv18792055	GRCh37: NC_000011.9:g.(?_1774733)_(1785089_?)del	deletion	germline	Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis	Pathogenic	ClinVar	RCV003107548.2, VCV002424315.2

No genotype data were submitted for this variant

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