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dbVar

Database of genomic structural variation

nsv6291643

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:817,172

Description:GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3 AND not provided

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: 5480 SVs from 104 studies. See in: genome view

Remapped(Score: Perfect):89,271,483-90,088,654

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6291643	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	89,271,483	90,088,654
nsv6291643	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	89,337,891	90,155,062

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17956581	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001827759.1, VCV001340329.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17956581	Remapped	Perfect	NC_000016.10:g.(?_ 89271483)_(9008865 4_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	89,271,483	90,088,654
nssv17956581	Submitted genomic		NC_000016.9:g.(?_8 9337891)_(90155062 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	89,337,891	90,155,062

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
nssv17956581	GRCh37: NC_000016.9:g.(?_89337891)_(90155062_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001827759.1, VCV001340329.1	3

No genotype data were submitted for this variant

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