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dbVar

Database of genomic structural variation

nsv6311268

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:4,293

Description:NC_000022.10:g.(?_32870990)_(32875282_?)dup AND Parkinsonian-pyramidal syndrome
Publication(s):Berardelli et al. 2013, Farlow et al. 2004

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: 64 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):32,475,003-32,479,295

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311268	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	32,475,003	32,479,295
nsv6311268	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	32,870,990	32,875,282

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975122	duplication	Multiple	Multiple	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15; Parkinson disease 15; Parkinsonian-pyramidal syndrome; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001939145.2, VCV001429863.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17975122	Remapped	Perfect	NC_000022.11:g.(?_ 32475003)_(3247929 5_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	32,475,003	32,479,295
nssv17975122	Submitted genomic		NC_000022.10:g.(?_ 32870990)_(3287528 2_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	32,870,990	32,875,282

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
nssv17975122	GRCh37: NC_000022.10:g.(?_32870990)_(32875282_?)dup	duplication	germline	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15; Parkinson disease 15; Parkinsonian-pyramidal syndrome; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001939145.2, VCV001429863.2

No genotype data were submitted for this variant

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