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dbVar

Database of genomic structural variation

nsv1398399

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:30,686,157

Description:GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 AND Ductal breast carcinoma

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: 96032 SVs from 150 studies. See in: genome view

Remapped(Score: Good):1,229,323-31,915,479

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv1398399	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	1,229,323	31,915,479
nsv1398399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	1,279,324	31,926,800

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv8639749	copy number gain	Multiple	Multiple	Ductal breast carcinoma	Uncertain significance	ClinVar	RCV000207053.1, VCV000221391.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv8639749	Remapped	Good	NC_000016.10:g.122 9323_31915479dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	1,229,323	31,915,479
nssv8639749	Submitted genomic		NC_000016.9:g.1279 324_31926800dup	GRCh37 (hg19)		NC_000016.9	Chr16	1,279,324	31,926,800

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	Copy number
nssv8639749	GRCh37: NC_000016.9:g.1279324_31926800dup	copy number gain	somatic	Ductal breast carcinoma	Uncertain significance	ClinVar	RCV000207053.1, VCV000221391.1	3

No genotype data were submitted for this variant

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