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dbVar

Database of genomic structural variation

nsv4681173

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:931,623

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: 3417 SVs from 114 studies. See in: genome view

Remapped(Score: Perfect):5,687,798-6,619,420

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681173	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	5,687,798	6,619,420
nsv4681173	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	5,709,028	6,640,651

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867080	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001327815.1, VCV001027249.1
nssv17173244	duplication	Multiple	Multiple	Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis	Uncertain significance	ClinVar	RCV001032559.1, VCV001027249.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867080	Remapped	Perfect	NC_000011.10:g.(?_ 5687798)_(6619420_ ?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	5,687,798	6,619,420
nssv17173244	Remapped	Perfect	NC_000011.10:g.(?_ 5687798)_(6619420_ ?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	5,687,798	6,619,420
nssv16867080	Submitted genomic		NC_000011.9:g.(?_5 709028)_(6640651_? )dup	GRCh37 (hg19)		NC_000011.9	Chr11	5,709,028	6,640,651
nssv17173244	Submitted genomic		NC_000011.9:g.(?_5 709028)_(6640651_? )dup	GRCh37 (hg19)		NC_000011.9	Chr11	5,709,028	6,640,651

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
nssv16867080	GRCh37: NC_000011.9:g.(?_5709028)_(6640651_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001327815.1, VCV001027249.1
nssv17173244	GRCh37: NC_000011.9:g.(?_5709028)_(6640651_?)dup	duplication	germline	Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis	Uncertain significance	ClinVar	RCV001032559.1, VCV001027249.1

No genotype data were submitted for this variant

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