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dbVar

Database of genomic structural variation

nsv4457474

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:284,704

Description:GRCh37/hg19 17q21.32(chr17:46874271-47158974)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: 1240 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):48,796,909-49,081,612

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4457474	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	48,796,909	49,081,612
nsv4457474	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	46,874,271	47,158,974

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15776238	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000848908.2, VCV000688217.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15776238	Remapped	Perfect	NC_000017.11:g.(?_ 48796909)_(4908161 2_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	48,796,909	49,081,612
nssv15776238	Submitted genomic		NC_000017.10:g.(?_ 46874271)_(4715897 4_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	46,874,271	47,158,974

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
nssv15776238	GRCh37: NC_000017.10:g.(?_46874271)_(47158974_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000848908.2, VCV000688217.2	3

No genotype data were submitted for this variant

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