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

dbVar

Database of genomic structural variation

nsv4681090

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:922,232

Description:NC_000001.11:g.(?_11012634)_(11934865_?)del AND Atrial fibrillation, familial, 6

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: 2860 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):11,012,634-11,934,865

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681090	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	11,012,634	11,934,865
nsv4681090	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	11,072,691	11,994,922

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16211887	deletion	Multiple	Multiple	ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6; Atrial fibrillation, familial, 6; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV001031444.2, VCV000830841.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16211887	Remapped	Perfect	NC_000001.11:g.(?_ 11012634)_(1193486 5_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	11,012,634	11,934,865
nssv16211887	Submitted genomic		NC_000001.10:g.(?_ 11072691)_(1199492 2_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	11,072,691	11,994,922

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
nssv16211887	GRCh37: NC_000001.10:g.(?_11072691)_(11994922_?)del	deletion	germline	ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6; Atrial fibrillation, familial, 6; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV001031444.2, VCV000830841.2

No genotype data were submitted for this variant

You are here: NCBI