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dbVar

Database of genomic structural variation

nsv3877981

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:622,432

Description:GRCh37/hg19 1p13.2(chr1:114209101-114831532)x3 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: 1375 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):113,666,479-114,288,910

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3877981	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	113,666,479	114,288,910
nsv3877981	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	114,209,101	114,831,532

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15171115	copy number gain	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV000749141.2, VCV000612505.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15171115	Remapped	Perfect	NC_000001.11:g.(?_ 113666479)_(114288 910_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	113,666,479	114,288,910
nssv15171115	Submitted genomic		NC_000001.10:g.(?_ 114209101)_(114831 532_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	114,209,101	114,831,532

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
nssv15171115	GRCh37: NC_000001.10:g.(?_114209101)_(114831532_?)dup	copy number gain	unknown	not provided	Likely benign	ClinVar	RCV000749141.2, VCV000612505.2	3

No genotype data were submitted for this variant

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