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dbVar

Database of genomic structural variation

nsv7137046

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:705,639

Description:GRCh37/hg19 4q22.1(chr4:90168931-90874569)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: 1791 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):89,247,780-89,953,418

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7137046	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	89,247,780	89,953,418
nsv7137046	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	90,168,931	90,874,569

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18830702	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003312614.1, VCV002571213.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18830702	Remapped	Perfect	NC_000004.12:g.(?_ 89247780)_(8995341 8_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	89,247,780	89,953,418
nssv18830702	Submitted genomic		NC_000004.11:g.(?_ 90168931)_(9087456 9_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	90,168,931	90,874,569

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
nssv18830702	GRCh37: NC_000004.11:g.(?_90168931)_(90874569_?)dup	copy number gain	germline	not provided	Pathogenic	ClinVar	RCV003312614.1, VCV002571213.2	3

No genotype data were submitted for this variant

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