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dbVar

Database of genomic structural variation

nsv4457524

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:1,069,374

Description:GRCh37/hg19 19p13.2(chr19:12354642-13424014)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: 3906 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):12,243,827-13,313,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4457524	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	12,243,827	13,313,200
nsv4457524	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	12,354,642	13,424,014

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15774889	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000846538.2, VCV000685830.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15774889	Remapped	Perfect	NC_000019.10:g.(?_ 12243827)_(1331320 0_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,243,827	13,313,200
nssv15774889	Submitted genomic		NC_000019.9:g.(?_1 2354642)_(13424014 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	12,354,642	13,424,014

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
nssv15774889	GRCh37: NC_000019.9:g.(?_12354642)_(13424014_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000846538.2, VCV000685830.2	1

No genotype data were submitted for this variant

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