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

dbVar

Database of genomic structural variation

nsv6313302

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:927

Description:NC_000023.10:g.(?_103031003)_(103031929_?)del AND Hereditary spastic paraplegia 2
Publication(s):Hobson et al. 1999

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: 98 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):103,776,075-103,777,001

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6313302	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	103,776,075	103,777,001
nsv6313302	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	103,031,003	103,031,929

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971669	deletion	Multiple	Multiple	PLP1-Related Disorders; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; Spastic paraplegia 2; Spastic paraplegia type 2	Pathogenic	ClinVar	RCV001958744.4, VCV001458915.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971669	Remapped	Perfect	NC_000023.11:g.(?_ 103776075)_(103777 001_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	103,776,075	103,777,001
nssv17971669	Submitted genomic		NC_000023.10:g.(?_ 103031003)_(103031 929_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	103,031,003	103,031,929

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
nssv17971669	GRCh37: NC_000023.10:g.(?_103031003)_(103031929_?)del	deletion	germline	PLP1-Related Disorders; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; Spastic paraplegia 2; Spastic paraplegia type 2	Pathogenic	ClinVar	RCV001958744.4, VCV001458915.4

No genotype data were submitted for this variant

You are here: NCBI