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dbVar

Database of genomic structural variation

nsv3905552

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:18,732

Description:GRCh37/hg19 11q22.1(chr11:101311359-101330090)x4 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: 116 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):101,440,628-101,459,359

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3905552	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	101,440,628	101,459,359
nsv3905552	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	101,311,359	101,330,090

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15159338	copy number gain	Multiple	Multiple	not provided	Benign	ClinVar	RCV000737650.2, VCV000601014.2	4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15159338	Remapped	Perfect	NC_000011.10:g.(?_ 101440628)_(101459 359_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	101,440,628	101,459,359
nssv15159338	Submitted genomic		NC_000011.9:g.(?_1 01311359)_(1013300 90_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	101,311,359	101,330,090

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
nssv15159338	GRCh37: NC_000011.9:g.(?_101311359)_(101330090_?)dup	copy number gain	unknown	not provided	Benign	ClinVar	RCV000737650.2, VCV000601014.2	4

No genotype data were submitted for this variant

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