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dbVar

Database of genomic structural variation

nsv6310790

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:371,667

Description:
See descriptions for individual calls in download files

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: 1058 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):228,007,129-228,378,795

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310790	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	228,007,129	228,378,795
nsv6310790	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	228,194,830	228,566,496

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968876	duplication	Multiple	Multiple	Hereditary spastic paraplegia 74; MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3; Multiple mitochondrial dysfunctions syndrome 3; Multiple mitochondrial dysfunctions syndrome type 3; SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE; SPG74	Uncertain significance	ClinVar	RCV001943243.3, VCV001412630.3
nssv17970542	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001919147.3, VCV001412630.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17968876	Remapped	Perfect	NC_000001.11:g.(?_ 228007129)_(228378 795_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	228,007,129	228,378,795
nssv17970542	Remapped	Perfect	NC_000001.11:g.(?_ 228007129)_(228378 795_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	228,007,129	228,378,795
nssv17968876	Submitted genomic		NC_000001.10:g.(?_ 228194830)_(228566 496_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	228,194,830	228,566,496
nssv17970542	Submitted genomic		NC_000001.10:g.(?_ 228194830)_(228566 496_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	228,194,830	228,566,496

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
nssv17968876	GRCh37: NC_000001.10:g.(?_228194830)_(228566496_?)dup	duplication	germline	Hereditary spastic paraplegia 74; MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3; Multiple mitochondrial dysfunctions syndrome 3; Multiple mitochondrial dysfunctions syndrome type 3; SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE; SPG74	Uncertain significance	ClinVar	RCV001943243.3, VCV001412630.3
nssv17970542	GRCh37: NC_000001.10:g.(?_228194830)_(228566496_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001919147.3, VCV001412630.3

No genotype data were submitted for this variant

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