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dbVar

Database of genomic structural variation

nsv3897632

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:1,353

Description:GRCh37/hg19 7p15.1(chr7:28573757-28575109)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: 127 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):28,534,139-28,535,491

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3897632	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	28,534,139	28,535,491
nsv3897632	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	28,573,757	28,575,109

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15168176	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000746579.2, VCV000609943.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15168176	Remapped	Perfect	NC_000007.14:g.(?_ 28534139)_(2853549 1_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	28,534,139	28,535,491
nssv15168176	Submitted genomic		NC_000007.13:g.(?_ 28573757)_(2857510 9_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	28,573,757	28,575,109

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
nssv15168176	GRCh37: NC_000007.13:g.(?_28573757)_(28575109_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000746579.2, VCV000609943.2	1

No genotype data were submitted for this variant

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