Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv491541

Organism: Homo sapiens

Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
Variant Type:copy number variation
Method Type:
Submitted on:GRCh37 (hg19)

Variant Calls:0
Validation:Not tested
Clinical Assertions: No
Region Size:16,114

Description:PLP1; Though this gene was evaluated in the context of Pelizaeus-Merzbacher disease (OMIM:312080), the gene has also been implicated in spastic paraplegia type 2.
Publication(s):Riggs et al. 2011

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: 291 SVs from 26 studies. See in: genome view

Remapped(Score: Good):103,776,506-103,792,619

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv491541	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	103,776,506	103,792,619
nsv491541	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	103,031,434	103,047,548

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184594	copy number loss	Curated	Curated	PELIZAEUS-MERZBACHER DISEASE; PMD; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2	Pathogenic	ClinGen Dosage Sensitivity Map	0
nssv1184595	copy number gain	Curated	Curated	PELIZAEUS-MERZBACHER DISEASE; PMD	Pathogenic	ClinGen Dosage Sensitivity Map	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1184594	Remapped	Good	NC_000023.11:g.(?_ 103776506)_(103792 619_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	103,776,506	103,792,619
nssv1184595	Remapped	Good	NC_000023.11:g.(?_ 103776506)_(103792 619_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	103,776,506	103,792,619
nssv1184594	Submitted genomic		NC_000023.10:g.(?_ 103031434)_(103047 548_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	103,031,434	103,047,548
nssv1184595	Submitted genomic		NC_000023.10:g.(?_ 103031434)_(103047 548_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	103,031,434	103,047,548

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184594	GRCh37: NC_000023.10:g.(?_103031434)_(103047548_?)del	copy number loss	PELIZAEUS-MERZBACHER DISEASE; PMD; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2	Pathogenic	ClinGen Dosage Sensitivity Map	0
nssv1184595	GRCh37: NC_000023.10:g.(?_103031434)_(103047548_?)dup	copy number gain	PELIZAEUS-MERZBACHER DISEASE; PMD	Pathogenic	ClinGen Dosage Sensitivity Map	2

No genotype data were submitted for this variant

You are here: NCBI