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dbVar

Database of genomic structural variation

nsv3887873

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:20,119

Description:GRCh37/hg19 4q21.21(chr4:81508970-81529088)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: 175 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):80,587,816-80,607,934

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3887873	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	80,587,816	80,607,934
nsv3887873	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	81,508,970	81,529,088

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15165284	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000743747.2, VCV000607111.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15165284	Remapped	Perfect	NC_000004.12:g.(?_ 80587816)_(8060793 4_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	80,587,816	80,607,934
nssv15165284	Submitted genomic		NC_000004.11:g.(?_ 81508970)_(8152908 8_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	81,508,970	81,529,088

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
nssv15165284	GRCh37: NC_000004.11:g.(?_81508970)_(81529088_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000743747.2, VCV000607111.2	1

No genotype data were submitted for this variant

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