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dbVar

Database of genomic structural variation

nsv7095496

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:3,788,542

Description:
See descriptions for individual calls in download files
Publication(s):Berardelli et al. 2013, Farlow et al. 2004, Schneider et al. 2010, Sparks et al. 2005

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: 11210 SVs from 113 studies. See in: genome view

Remapped(Score: Perfect):18,872,845-22,661,386

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095496	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	18,872,845	22,661,386
nsv7095496	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	19,199,339	22,987,879

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788300	duplication	Multiple	Multiple	Deficiency of pyrroline-5-carboxylate reductase; HYPERPROLINEMIA, TYPE II; HYRPRO2; Hyperprolinemia type 2	Uncertain significance	ClinVar	RCV003107740.2, VCV002424757.3
nssv18789674	duplication	Multiple	Multiple	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; PINK1 Type of Young-Onset Parkinson Disease; Parkinson disease 6, autosomal recessive early-onset; See individual phenotypes in OMIM allelic variants; Young-onset Parkinson disease	Uncertain significance	ClinVar	RCV003113320.2, VCV002424757.3
nssv18789675	duplication	Multiple	Multiple	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R; Congenital disorder of glycosylation type Ir; DDOST-CDG	Uncertain significance	ClinVar	RCV003113321.1, VCV002424757.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788300	Remapped	Perfect	NC_000001.11:g.(?_ 18872845)_(2266138 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	18,872,845	22,661,386
nssv18789674	Remapped	Perfect	NC_000001.11:g.(?_ 18872845)_(2266138 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	18,872,845	22,661,386
nssv18789675	Remapped	Perfect	NC_000001.11:g.(?_ 18872845)_(2266138 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	18,872,845	22,661,386
nssv18788300	Submitted genomic		NC_000001.10:g.(?_ 19199339)_(2298787 9_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	19,199,339	22,987,879
nssv18789674	Submitted genomic		NC_000001.10:g.(?_ 19199339)_(2298787 9_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	19,199,339	22,987,879
nssv18789675	Submitted genomic		NC_000001.10:g.(?_ 19199339)_(2298787 9_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	19,199,339	22,987,879

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
nssv18788300	GRCh37: NC_000001.10:g.(?_19199339)_(22987879_?)dup	duplication	germline	Deficiency of pyrroline-5-carboxylate reductase; HYPERPROLINEMIA, TYPE II; HYRPRO2; Hyperprolinemia type 2	Uncertain significance	ClinVar	RCV003107740.2, VCV002424757.3
nssv18789674	GRCh37: NC_000001.10:g.(?_19199339)_(22987879_?)dup	duplication	germline	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; PINK1 Type of Young-Onset Parkinson Disease; Parkinson disease 6, autosomal recessive early-onset; See individual phenotypes in OMIM allelic variants; Young-onset Parkinson disease	Uncertain significance	ClinVar	RCV003113320.2, VCV002424757.3
nssv18789675	GRCh37: NC_000001.10:g.(?_19199339)_(22987879_?)dup	duplication	germline	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R; Congenital disorder of glycosylation type Ir; DDOST-CDG	Uncertain significance	ClinVar	RCV003113321.1, VCV002424757.3

No genotype data were submitted for this variant

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