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dbVar

Database of genomic structural variation

nsv7095217

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:242,211

Description:NC_000019.9:g.(?_49472545)_(49714755_?)del AND Progressive familial heart block type IB

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: 1155 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):48,969,288-49,211,498

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095217	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	48,969,288	49,211,498
nsv7095217	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	49,472,545	49,714,755

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786857	deletion	Multiple	Multiple	Familial progressive cardiac conduction defect; PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B; Progressive familial heart block type 1B	Uncertain significance	ClinVar	RCV003119771.2, VCV002426330.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786857	Remapped	Perfect	NC_000019.10:g.(?_ 48969288)_(4921149 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	48,969,288	49,211,498
nssv18786857	Submitted genomic		NC_000019.9:g.(?_4 9472545)_(49714755 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	49,472,545	49,714,755

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
nssv18786857	GRCh37: NC_000019.9:g.(?_49472545)_(49714755_?)del	deletion	germline	Familial progressive cardiac conduction defect; PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B; Progressive familial heart block type 1B	Uncertain significance	ClinVar	RCV003119771.2, VCV002426330.2

No genotype data were submitted for this variant

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