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dbVar

Database of genomic structural variation

nsv4455097

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:67,715

Description:GRCh37/hg19 14q23.1(chr14:59939135-60006849)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: 225 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):59,472,417-59,540,131

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4455097	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	59,472,417	59,540,131
nsv4455097	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	59,939,135	60,006,849

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15772065	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000846465.2, VCV000685757.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15772065	Remapped	Perfect	NC_000014.9:g.(?_5 9472417)_(59540131 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	59,472,417	59,540,131
nssv15772065	Submitted genomic		NC_000014.8:g.(?_5 9939135)_(60006849 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	59,939,135	60,006,849

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
nssv15772065	GRCh37: NC_000014.8:g.(?_59939135)_(60006849_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000846465.2, VCV000685757.2	3

No genotype data were submitted for this variant

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