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dbVar

Database of genomic structural variation

nsv7095739

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:2,994,902

Description:NC_000001.10:g.(?_108679275)_(111674176_?)del AND multiple conditions

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: 8651 SVs from 127 studies. See in: genome view

Remapped(Score: Perfect):108,136,653-111,131,554

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095739	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	108,136,653	111,131,554
nsv7095739	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	108,679,275	111,674,176

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791818	deletion	Multiple	Multiple	Autosomal recessive spastic paraplegia type 63; Hereditary spastic paraplegia 63; PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9; Pontocerebellar hypoplasia type 9; Pontocerebellar hypoplasia type 9; SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE; SPG63	Pathogenic	ClinVar	RCV003105726.2, VCV002424031.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791818	Remapped	Perfect	NC_000001.11:g.(?_ 108136653)_(111131 554_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	108,136,653	111,131,554
nssv18791818	Submitted genomic		NC_000001.10:g.(?_ 108679275)_(111674 176_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	108,679,275	111,674,176

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
nssv18791818	GRCh37: NC_000001.10:g.(?_108679275)_(111674176_?)del	deletion	germline	Autosomal recessive spastic paraplegia type 63; Hereditary spastic paraplegia 63; PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9; Pontocerebellar hypoplasia type 9; Pontocerebellar hypoplasia type 9; SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE; SPG63	Pathogenic	ClinVar	RCV003105726.2, VCV002424031.3

No genotype data were submitted for this variant

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