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dbVar

Database of genomic structural variation

nsv5673505

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:194,326

Description:NC_000005.9:g.(?_1253823)_(1448148_?)del AND Parkinsonism-dystonia, infantile

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: 1577 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):1,253,708-1,448,033

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673505	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	1,253,708	1,448,033
nsv5673505	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187547.1	Chr5\|NT_18 7547.1	61,740	195,710
nsv5673505	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	1,253,823	1,448,148

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172863	deletion	Multiple	Multiple	Infantile Parkinsonism-dystonia; PARKINSONISM-DYSTONIA, INFANTILE, 1; PKDYS1; Parkinsonism-dystonia, infantile	Pathogenic	ClinVar	RCV001384881.1, VCV001072228.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172863	Remapped	Pass	NT_187547.1:g.(?_6 1740)_(195710_?)de l	GRCh38.p12	Second Pass	NT_187547.1	Chr5\|NT_18 7547.1	61,740	195,710
nssv17172863	Remapped	Perfect	NC_000005.10:g.(?_ 1253708)_(1448033_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	1,253,708	1,448,033
nssv17172863	Submitted genomic		NC_000005.9:g.(?_1 253823)_(1448148_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	1,253,823	1,448,148

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
nssv17172863	GRCh37: NC_000005.9:g.(?_1253823)_(1448148_?)del	deletion	germline	Infantile Parkinsonism-dystonia; PARKINSONISM-DYSTONIA, INFANTILE, 1; PKDYS1; Parkinsonism-dystonia, infantile	Pathogenic	ClinVar	RCV001384881.1, VCV001072228.1

No genotype data were submitted for this variant

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