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dbVar

Database of genomic structural variation

nsv4683475

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:51,488

Description:NC_000010.11:g.(?_13278301)_(13329788_?)dup 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: 241 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):13,278,301-13,329,788

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683475	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	13,278,301	13,329,788
nsv4683475	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	13,320,301	13,371,788

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214420	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001033208.1, VCV000832735.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214420	Remapped	Perfect	NC_000010.11:g.(?_ 13278301)_(1332978 8_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	13,278,301	13,329,788
nssv16214420	Submitted genomic		NC_000010.10:g.(?_ 13320301)_(1337178 8_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	13,320,301	13,371,788

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
nssv16214420	GRCh37: NC_000010.10:g.(?_13320301)_(13371788_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001033208.1, VCV000832735.1

No genotype data were submitted for this variant

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