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dbVar

Database of genomic structural variation

nsv5673116

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:171,520

Description:
See descriptions for individual calls in download files
Publication(s):ACOG Committee on Genetics et al. 2009, Blout et al. 2013, Botkin et al. 2014, Committee on Genetics et al. 2015, Cornel et al. 2013, Edwards et al. 2015, Fears et al. 2012, Grody et al. 2013, Gross et al. 2008, Howard et al. 2015, Langer et al. 2012, Matalon et al. 1999, Nesterova et al. 2001, Skirton et al. 2013, Teckman et al. 2014, Therrell et al. 2012

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: 990 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):3,489,225-3,660,744

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673116	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	3,489,225	3,660,744
nsv5673116	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	3,392,519	3,564,038

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172562	deletion	Multiple	Multiple	CYSTINOSIS, ADULT NONNEPHROPATHIC; CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; Cystinosis; Cystinosis; Cystinosis, ocular nonnephropathic; Genetic Diseases, Inborn; Inborn genetic diseases; Juvenile nephropathic cystinosis; Juvenile nephropathic cystinosis; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001381609.1, VCV001069678.1
nssv17172741	deletion	Multiple	Multiple	CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system	Pathogenic	ClinVar	RCV001383990.1, VCV001069678.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172562	Remapped	Perfect	NC_000017.11:g.(?_ 3489225)_(3660744_ ?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	3,489,225	3,660,744
nssv17172741	Remapped	Perfect	NC_000017.11:g.(?_ 3489225)_(3660744_ ?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	3,489,225	3,660,744
nssv17172562	Submitted genomic		NC_000017.10:g.(?_ 3392519)_(3564038_ ?)del	GRCh37 (hg19)		NC_000017.10	Chr17	3,392,519	3,564,038
nssv17172741	Submitted genomic		NC_000017.10:g.(?_ 3392519)_(3564038_ ?)del	GRCh37 (hg19)		NC_000017.10	Chr17	3,392,519	3,564,038

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
nssv17172562	GRCh37: NC_000017.10:g.(?_3392519)_(3564038_?)del	deletion	germline	CYSTINOSIS, ADULT NONNEPHROPATHIC; CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; Cystinosis; Cystinosis; Cystinosis, ocular nonnephropathic; Genetic Diseases, Inborn; Inborn genetic diseases; Juvenile nephropathic cystinosis; Juvenile nephropathic cystinosis; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001381609.1, VCV001069678.1
nssv17172741	GRCh37: NC_000017.10:g.(?_3392519)_(3564038_?)del	deletion	germline	CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system	Pathogenic	ClinVar	RCV001383990.1, VCV001069678.1

No genotype data were submitted for this variant

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