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dbVar

Database of genomic structural variation

nsv3906590

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:145,948

Description:GRCh37/hg19 15q15.3(chr15:43868571-44014518)x0 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: 801 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):43,576,373-43,722,320

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3906590	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	43,576,373	43,722,320
nsv3906590	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	43,868,571	44,014,518

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142863	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000511382.2, VCV000443647.2	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142863	Remapped	Perfect	NC_000015.10:g.(?_ 43576373)_(4372232 0_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	43,576,373	43,722,320
nssv15142863	Submitted genomic		NC_000015.9:g.(?_4 3868571)_(44014518 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	43,868,571	44,014,518

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
nssv15142863	GRCh37: NC_000015.9:g.(?_43868571)_(44014518_?)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000511382.2, VCV000443647.2	0

No genotype data were submitted for this variant

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