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dbVar

Database of genomic structural variation

nsv5674225

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:415,251

Description:GRCh37/hg19 6q26(chr6:162394320-162475157) AND Young-onset Parkinson disease

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: 2408 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):161,785,868-162,201,118

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv5674225	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	161,785,868	161,973,288	162,054,125	162,201,118
nsv5674225	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	162,206,900	162,394,320	162,475,157	162,622,150

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17173320	copy number loss	Multiple	Multiple	Young-onset Parkinson disease; Young-onset Parkinson disease	Pathogenic	ClinVar	RCV001449636.2, VCV001120006.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17173320	Remapped	Perfect	NC_000006.12:g.(16 1785868_161973288) _(162054125_162201 118)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	161,785,868	161,973,288	162,054,125	162,201,118
nssv17173320	Submitted genomic		NC_000006.11:g.(16 2206900_162394320) _(162475157_162622 150)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,206,900	162,394,320	162,475,157	162,622,150

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
nssv17173320	GRCh37: NC_000006.11:g.(162206900_162394320)_(162475157_162622150)del	copy number loss	germline	Young-onset Parkinson disease; Young-onset Parkinson disease	Pathogenic	ClinVar	RCV001449636.2, VCV001120006.2

No genotype data were submitted for this variant

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