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dbVar

Database of genomic structural variation

nsv7093694

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:6,056,006

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: 15840 SVs from 121 studies. See in: genome view

Remapped(Score: Perfect):59,148,873-65,204,878

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093694	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	59,148,873	65,204,878
nsv7093694	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	58,916,346	64,972,349

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789746	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003113393.1, VCV002425028.2
nssv18789747	duplication	Multiple	Multiple	LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3; Leukocyte adhesion deficiency; Leukocyte adhesion deficiency type III; Leukocyte adhesion deficiency, type III	Uncertain significance	ClinVar	RCV003113394.2, VCV002425028.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789746	Remapped	Perfect	NC_000011.10:g.(?_ 59148873)_(6520487 8_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	59,148,873	65,204,878
nssv18789747	Remapped	Perfect	NC_000011.10:g.(?_ 59148873)_(6520487 8_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	59,148,873	65,204,878
nssv18789746	Submitted genomic		NC_000011.9:g.(?_5 8916346)_(64972349 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	58,916,346	64,972,349
nssv18789747	Submitted genomic		NC_000011.9:g.(?_5 8916346)_(64972349 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	58,916,346	64,972,349

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
nssv18789746	GRCh37: NC_000011.9:g.(?_58916346)_(64972349_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003113393.1, VCV002425028.2
nssv18789747	GRCh37: NC_000011.9:g.(?_58916346)_(64972349_?)dup	duplication	germline	LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3; Leukocyte adhesion deficiency; Leukocyte adhesion deficiency type III; Leukocyte adhesion deficiency, type III	Uncertain significance	ClinVar	RCV003113394.2, VCV002425028.2

No genotype data were submitted for this variant

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