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dbVar

Database of genomic structural variation

nsv6311893

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:2,693,811

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: 6899 SVs from 111 studies. See in: genome view

Remapped(Score: Perfect):101,025,865-103,719,675

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311893	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	101,025,865	103,719,675
nsv6311893	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	101,947,022	104,640,832

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970822	deletion	Multiple	Multiple	Beta-D-mannosidosis; Beta-mannosidosis; MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB	Pathogenic	ClinVar	RCV001946800.3, VCV001456123.3
nssv18788406	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003107924.2, VCV001456123.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970822	Remapped	Perfect	NC_000004.12:g.(?_ 101025865)_(103719 675_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	101,025,865	103,719,675
nssv18788406	Remapped	Perfect	NC_000004.12:g.(?_ 101025865)_(103719 675_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	101,025,865	103,719,675
nssv17970822	Submitted genomic		NC_000004.11:g.(?_ 101947022)_(104640 832_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	101,947,022	104,640,832
nssv18788406	Submitted genomic		NC_000004.11:g.(?_ 101947022)_(104640 832_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	101,947,022	104,640,832

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
nssv17970822	GRCh37: NC_000004.11:g.(?_101947022)_(104640832_?)del	deletion	germline	Beta-D-mannosidosis; Beta-mannosidosis; MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB	Pathogenic	ClinVar	RCV001946800.3, VCV001456123.3
nssv18788406	GRCh37: NC_000004.11:g.(?_101947022)_(104640832_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003107924.2, VCV001456123.3

No genotype data were submitted for this variant

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