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dbVar

Database of genomic structural variation

nsv4457198

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:445,324

Description:GRCh37/hg19 6p12.1(chr6:55053759-55499082)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: 1334 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):55,188,961-55,634,284

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4457198	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	55,188,961	55,634,284
nsv4457198	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	55,053,759	55,499,082

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15775514	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000847429.2, VCV000686721.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15775514	Remapped	Perfect	NC_000006.12:g.(?_ 55188961)_(5563428 4_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,188,961	55,634,284
nssv15775514	Submitted genomic		NC_000006.11:g.(?_ 55053759)_(5549908 2_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	55,053,759	55,499,082

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
nssv15775514	GRCh37: NC_000006.11:g.(?_55053759)_(55499082_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV000847429.2, VCV000686721.2	1

No genotype data were submitted for this variant

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