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dbVar

Database of genomic structural variation

nsv3880764

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:9,825

Description:GRCh37/hg19 3p25.2(chr3:12401414-12411238)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: 97 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):12,359,915-12,369,739

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3880764	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	12,359,915	12,369,739
nsv3880764	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	12,401,414	12,411,238

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15163759	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000742255.2, VCV000605619.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15163759	Remapped	Perfect	NC_000003.12:g.(?_ 12359915)_(1236973 9_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	12,359,915	12,369,739
nssv15163759	Submitted genomic		NC_000003.11:g.(?_ 12401414)_(1241123 8_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	12,401,414	12,411,238

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
nssv15163759	GRCh37: NC_000003.11:g.(?_12401414)_(12411238_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000742255.2, VCV000605619.2	1

No genotype data were submitted for this variant

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