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dbVar

Database of genomic structural variation

nsv3909042

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:95,355

Description:GRCh37/hg19 15q21.3(chr15:55702481-55797835)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: 466 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):55,410,283-55,505,637

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3909042	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	55,410,283	55,505,637
nsv3909042	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	55,702,481	55,797,835

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15154739	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000683696.1, VCV000564207.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15154739	Remapped	Perfect	NC_000015.10:g.(?_ 55410283)_(5550563 7_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	55,410,283	55,505,637
nssv15154739	Submitted genomic		NC_000015.9:g.(?_5 5702481)_(55797835 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	55,702,481	55,797,835

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
nssv15154739	GRCh37: NC_000015.9:g.(?_55702481)_(55797835_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV000683696.1, VCV000564207.1	1

No genotype data were submitted for this variant

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