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dbVar

Database of genomic structural variation

nsv3888904

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:3,520,831

Description:GRCh37/hg19 5q12.1-12.3(chr5:59753805-63274635)x1 AND See cases

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: 8407 SVs from 108 studies. See in: genome view

Remapped(Score: Perfect):60,457,978-63,978,808

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3888904	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	60,457,978	63,978,808
nsv3888904	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	59,753,805	63,274,635

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15150707	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000511984.2, VCV000442491.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15150707	Remapped	Perfect	NC_000005.10:g.(?_ 60457978)_(6397880 8_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	60,457,978	63,978,808
nssv15150707	Submitted genomic		NC_000005.9:g.(?_5 9753805)_(63274635 _?)del	GRCh37 (hg19)		NC_000005.9	Chr5	59,753,805	63,274,635

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
nssv15150707	GRCh37: NC_000005.9:g.(?_59753805)_(63274635_?)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000511984.2, VCV000442491.2	1

No genotype data were submitted for this variant

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