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dbVar

Database of genomic structural variation

nsv7095957

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:204

Description:NC_000001.10:g.(?_20972033)_(20972236_?)del AND Autosomal recessive early-onset Parkinson disease 6
Publication(s):Berardelli et al. 2013, Farlow et al. 2004, Schneider et al. 2010

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: 70 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):20,645,540-20,645,743

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095957	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	20,645,540	20,645,743
nsv7095957	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	20,972,033	20,972,236

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787852	deletion	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	Pathogenic	ClinVar	RCV003122867.2, VCV002427034.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787852	Remapped	Perfect	NC_000001.11:g.(?_ 20645540)_(2064574 3_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	20,645,540	20,645,743
nssv18787852	Submitted genomic		NC_000001.10:g.(?_ 20972033)_(2097223 6_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	20,972,033	20,972,236

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
nssv18787852	GRCh37: NC_000001.10:g.(?_20972033)_(20972236_?)del	deletion	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	Pathogenic	ClinVar	RCV003122867.2, VCV002427034.2

No genotype data were submitted for this variant

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