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dbVar

Database of genomic structural variation

nsv3892349

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:212,562

Description:GRCh37/hg19 17p13.3(chr17:2336350-2548911)x3 AND See cases

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: 974 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):2,433,056-2,645,617

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3892349	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	2,433,056	2,645,617
nsv3892349	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	2,336,350	2,548,911

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15151239	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000512064.2, VCV000442746.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15151239	Remapped	Perfect	NC_000017.11:g.(?_ 2433056)_(2645617_ ?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	2,433,056	2,645,617
nssv15151239	Submitted genomic		NC_000017.10:g.(?_ 2336350)_(2548911_ ?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	2,336,350	2,548,911

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
nssv15151239	GRCh37: NC_000017.10:g.(?_2336350)_(2548911_?)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000512064.2, VCV000442746.2	3

No genotype data were submitted for this variant

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