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dbVar

Database of genomic structural variation

nsv4674088

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:596,052

Description:GRCh37/hg19 1p34.1(chr1:45386263-45982314)x1 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: 1782 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):44,920,591-45,516,642

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4674088	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	44,920,591	45,516,642
nsv4674088	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	45,386,263	45,982,314

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16207708	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001005083.1, VCV000814071.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16207708	Remapped	Perfect	NC_000001.11:g.(?_ 44920591)_(4551664 2_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	44,920,591	45,516,642
nssv16207708	Submitted genomic		NC_000001.10:g.(?_ 45386263)_(4598231 4_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	45,386,263	45,982,314

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
nssv16207708	GRCh37: NC_000001.10:g.(?_45386263)_(45982314_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV001005083.1, VCV000814071.1	1

No genotype data were submitted for this variant

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